Incidental Mutation 'R9648:Gtf2i'
| ID |
726858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2i
|
| Ensembl Gene |
ENSMUSG00000060261 |
| Gene Name |
general transcription factor II I |
| Synonyms |
6030441I21Rik, TFII-I, BAP-135 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
134266688-134343614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134284770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 510
(N510Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059042]
[ENSMUST00000082057]
[ENSMUST00000111261]
[ENSMUST00000172715]
[ENSMUST00000173341]
[ENSMUST00000173888]
[ENSMUST00000174155]
[ENSMUST00000174354]
[ENSMUST00000174513]
[ENSMUST00000174772]
|
| AlphaFold |
Q9ESZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059042
AA Change: N510Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: N510Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.4e-34 |
PFAM |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
361 |
436 |
3.4e-33 |
PFAM |
|
Pfam:GTF2I
|
466 |
541 |
5e-34 |
PFAM |
|
Pfam:GTF2I
|
571 |
646 |
3.3e-33 |
PFAM |
|
Pfam:GTF2I
|
733 |
808 |
3.9e-33 |
PFAM |
|
Pfam:GTF2I
|
868 |
943 |
9.4e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082057
AA Change: N489Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: N489Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.3e-34 |
PFAM |
|
low complexity region
|
307 |
317 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
340 |
415 |
3.3e-33 |
PFAM |
|
Pfam:GTF2I
|
445 |
520 |
4.9e-34 |
PFAM |
|
Pfam:GTF2I
|
550 |
625 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
712 |
787 |
3.8e-33 |
PFAM |
|
Pfam:GTF2I
|
847 |
922 |
9.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111261
AA Change: N491Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: N491Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.3e-34 |
PFAM |
|
low complexity region
|
309 |
319 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
342 |
417 |
3.3e-33 |
PFAM |
|
Pfam:GTF2I
|
447 |
522 |
4.9e-34 |
PFAM |
|
Pfam:GTF2I
|
552 |
627 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
714 |
789 |
3.8e-33 |
PFAM |
|
Pfam:GTF2I
|
849 |
924 |
9.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172715
AA Change: N425Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: N425Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
9.7e-35 |
PFAM |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
276 |
351 |
2.4e-33 |
PFAM |
|
Pfam:GTF2I
|
381 |
456 |
3.6e-34 |
PFAM |
|
Pfam:GTF2I
|
486 |
561 |
2.4e-33 |
PFAM |
|
Pfam:GTF2I
|
648 |
723 |
2.8e-33 |
PFAM |
|
Pfam:GTF2I
|
783 |
858 |
6.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173341
AA Change: N470Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: N470Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1e-34 |
PFAM |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
321 |
396 |
2.6e-33 |
PFAM |
|
Pfam:GTF2I
|
426 |
501 |
3.8e-34 |
PFAM |
|
Pfam:GTF2I
|
531 |
606 |
2.5e-33 |
PFAM |
|
Pfam:GTF2I
|
693 |
768 |
3e-33 |
PFAM |
|
Pfam:GTF2I
|
832 |
907 |
7.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173888
AA Change: N451Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: N451Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.3e-34 |
PFAM |
|
low complexity region
|
245 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
302 |
377 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
407 |
482 |
4.6e-34 |
PFAM |
|
Pfam:GTF2I
|
512 |
587 |
3.1e-33 |
PFAM |
|
Pfam:GTF2I
|
674 |
749 |
3.6e-33 |
PFAM |
|
Pfam:GTF2I
|
809 |
884 |
8.7e-30 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: N427Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
96 |
170 |
2.7e-32 |
PFAM |
|
low complexity region
|
209 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
256 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
279 |
353 |
5.1e-31 |
PFAM |
|
Pfam:GTF2I
|
384 |
437 |
2.7e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174155
AA Change: N510Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: N510Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
186 |
1.6e-34 |
PFAM |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
361 |
435 |
3e-33 |
PFAM |
|
Pfam:GTF2I
|
466 |
540 |
9.1e-34 |
PFAM |
|
Pfam:GTF2I
|
571 |
645 |
1.8e-32 |
PFAM |
|
Pfam:GTF2I
|
733 |
807 |
2.2e-33 |
PFAM |
|
Pfam:GTF2I
|
868 |
942 |
6e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174354
AA Change: N491Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: N491Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.3e-34 |
PFAM |
|
low complexity region
|
309 |
319 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
342 |
417 |
3.3e-33 |
PFAM |
|
Pfam:GTF2I
|
447 |
522 |
4.9e-34 |
PFAM |
|
Pfam:GTF2I
|
552 |
627 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
714 |
789 |
3.8e-33 |
PFAM |
|
Pfam:GTF2I
|
849 |
924 |
9.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174513
AA Change: N470Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: N470Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.3e-34 |
PFAM |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
321 |
396 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
426 |
501 |
4.8e-34 |
PFAM |
|
Pfam:GTF2I
|
531 |
606 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
693 |
768 |
3.7e-33 |
PFAM |
|
Pfam:GTF2I
|
828 |
903 |
8.9e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174772
AA Change: N489Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: N489Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
112 |
187 |
1.3e-34 |
PFAM |
|
low complexity region
|
307 |
317 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
340 |
415 |
3.3e-33 |
PFAM |
|
Pfam:GTF2I
|
445 |
520 |
4.9e-34 |
PFAM |
|
Pfam:GTF2I
|
550 |
625 |
3.2e-33 |
PFAM |
|
Pfam:GTF2I
|
712 |
787 |
3.8e-33 |
PFAM |
|
Pfam:GTF2I
|
847 |
922 |
9.1e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,609,172 (GRCm39) |
V798M |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,273,245 (GRCm39) |
L1171P |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,780,707 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,943,720 (GRCm39) |
N2720K |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,919,312 (GRCm39) |
L309S |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,234,903 (GRCm39) |
N2126S |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,313,734 (GRCm39) |
T329A |
probably benign |
Het |
| Cmas |
T |
A |
6: 142,716,935 (GRCm39) |
L276M |
probably benign |
Het |
| Cnbd1 |
A |
C |
4: 19,098,142 (GRCm39) |
|
probably null |
Het |
| Depdc1b |
A |
G |
13: 108,460,444 (GRCm39) |
N18S |
probably damaging |
Het |
| Dido1 |
C |
A |
2: 180,302,468 (GRCm39) |
R1812I |
probably damaging |
Het |
| Dnajc2 |
G |
A |
5: 21,968,478 (GRCm39) |
T403M |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,230,455 (GRCm39) |
I120F |
probably damaging |
Het |
| Egfl6 |
C |
T |
X: 165,319,235 (GRCm39) |
V379I |
probably benign |
Het |
| Foxa2 |
T |
A |
2: 147,887,799 (GRCm39) |
K12M |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,315,336 (GRCm39) |
V198E |
probably damaging |
Het |
| Gramd1b |
A |
T |
9: 40,244,793 (GRCm39) |
V205E |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,248 (GRCm39) |
I118V |
probably benign |
Het |
| Icam1 |
T |
C |
9: 20,937,697 (GRCm39) |
F245L |
probably damaging |
Het |
| Ifna16 |
C |
T |
4: 88,595,060 (GRCm39) |
A12T |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,333,587 (GRCm39) |
T231A |
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,586,816 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
C |
2: 172,091,639 (GRCm39) |
L287P |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,478,757 (GRCm39) |
V404A |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,188,010 (GRCm39) |
I896F |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,202,746 (GRCm39) |
Y1318N |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,313 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,748 (GRCm39) |
S267T |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,943,590 (GRCm39) |
W96R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,307,318 (GRCm39) |
L950P |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,190,089 (GRCm39) |
T2816A |
probably benign |
Het |
| Pde7a |
A |
G |
3: 19,310,966 (GRCm39) |
Y87H |
probably damaging |
Het |
| Pip4k2c |
T |
C |
10: 127,041,569 (GRCm39) |
H163R |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,174,900 (GRCm39) |
L846Q |
probably damaging |
Het |
| Plppr2 |
T |
A |
9: 21,852,379 (GRCm39) |
S113T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,314,284 (GRCm39) |
L87Q |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,690 (GRCm39) |
S113P |
possibly damaging |
Het |
| Rexo1 |
T |
A |
10: 80,385,540 (GRCm39) |
H506L |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,777 (GRCm39) |
I6V |
probably benign |
Het |
| Rsph3a |
T |
C |
17: 8,171,395 (GRCm39) |
M170T |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,877,688 (GRCm39) |
S156P |
unknown |
Het |
| Rtp3 |
T |
C |
9: 110,815,586 (GRCm39) |
T260A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,551,224 (GRCm39) |
F657S |
probably damaging |
Het |
| Serpind1 |
T |
A |
16: 17,154,318 (GRCm39) |
N48K |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,188,484 (GRCm39) |
D95V |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,608 (GRCm39) |
C255R |
probably damaging |
Het |
| Slc6a12 |
C |
A |
6: 121,335,661 (GRCm39) |
Y330* |
probably null |
Het |
| Slco1b2 |
T |
C |
6: 141,602,655 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Spdye4a |
C |
T |
5: 143,210,848 (GRCm39) |
R74K |
probably benign |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Stat1 |
A |
T |
1: 52,165,695 (GRCm39) |
D97V |
probably damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,585 (GRCm39) |
E418G |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,876 (GRCm39) |
D525G |
probably damaging |
Het |
| Tcstv7b |
C |
T |
13: 120,702,495 (GRCm39) |
P97L |
possibly damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,840 (GRCm39) |
L81Q |
probably damaging |
Het |
| Tmt1a3 |
C |
T |
15: 100,232,857 (GRCm39) |
A16V |
probably benign |
Het |
| Trim50 |
T |
A |
5: 135,395,475 (GRCm39) |
I277N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,619,806 (GRCm39) |
Q15954L |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,960,494 (GRCm39) |
K592R |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,599 (GRCm39) |
I2947V |
probably benign |
Het |
| Zan |
A |
C |
5: 137,405,992 (GRCm39) |
F3746V |
unknown |
Het |
| Zfp418 |
G |
A |
7: 7,185,171 (GRCm39) |
S378N |
probably benign |
Het |
| Zfp518b |
C |
G |
5: 38,830,240 (GRCm39) |
Q588H |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,204,212 (GRCm39) |
R83K |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,231,915 (GRCm39) |
R437C |
probably damaging |
Het |
|
| Other mutations in Gtf2i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Gtf2i
|
APN |
5 |
134,271,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Gtf2i
|
APN |
5 |
134,284,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01743:Gtf2i
|
APN |
5 |
134,315,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Gtf2i
|
APN |
5 |
134,278,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02553:Gtf2i
|
APN |
5 |
134,274,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Gtf2i
|
APN |
5 |
134,315,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Gtf2i
|
APN |
5 |
134,308,281 (GRCm39) |
splice site |
probably benign |
|
|
IGL03018:Gtf2i
|
APN |
5 |
134,318,189 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03051:Gtf2i
|
APN |
5 |
134,271,768 (GRCm39) |
nonsense |
probably null |
|
|
P0041:Gtf2i
|
UTSW |
5 |
134,273,742 (GRCm39) |
splice site |
probably benign |
|
|
R0330:Gtf2i
|
UTSW |
5 |
134,280,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0515:Gtf2i
|
UTSW |
5 |
134,271,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0529:Gtf2i
|
UTSW |
5 |
134,290,723 (GRCm39) |
nonsense |
probably null |
|
|
R0594:Gtf2i
|
UTSW |
5 |
134,271,027 (GRCm39) |
splice site |
probably benign |
|
|
R0650:Gtf2i
|
UTSW |
5 |
134,290,691 (GRCm39) |
splice site |
probably benign |
|
|
R1055:Gtf2i
|
UTSW |
5 |
134,292,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Gtf2i
|
UTSW |
5 |
134,271,748 (GRCm39) |
splice site |
probably benign |
|
|
R1916:Gtf2i
|
UTSW |
5 |
134,275,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2969:Gtf2i
|
UTSW |
5 |
134,280,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3013:Gtf2i
|
UTSW |
5 |
134,324,358 (GRCm39) |
splice site |
probably benign |
|
|
R4392:Gtf2i
|
UTSW |
5 |
134,289,483 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4421:Gtf2i
|
UTSW |
5 |
134,283,891 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4635:Gtf2i
|
UTSW |
5 |
134,274,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Gtf2i
|
UTSW |
5 |
134,284,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Gtf2i
|
UTSW |
5 |
134,272,414 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5063:Gtf2i
|
UTSW |
5 |
134,289,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Gtf2i
|
UTSW |
5 |
134,273,686 (GRCm39) |
nonsense |
probably null |
|
|
R5829:Gtf2i
|
UTSW |
5 |
134,292,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Gtf2i
|
UTSW |
5 |
134,284,812 (GRCm39) |
nonsense |
probably null |
|
|
R6119:Gtf2i
|
UTSW |
5 |
134,315,911 (GRCm39) |
splice site |
probably null |
|
|
R6576:Gtf2i
|
UTSW |
5 |
134,292,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Gtf2i
|
UTSW |
5 |
134,271,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Gtf2i
|
UTSW |
5 |
134,311,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Gtf2i
|
UTSW |
5 |
134,292,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Gtf2i
|
UTSW |
5 |
134,273,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7366:Gtf2i
|
UTSW |
5 |
134,294,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Gtf2i
|
UTSW |
5 |
134,311,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Gtf2i
|
UTSW |
5 |
134,295,471 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8039:Gtf2i
|
UTSW |
5 |
134,284,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8041:Gtf2i
|
UTSW |
5 |
134,322,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8154:Gtf2i
|
UTSW |
5 |
134,280,721 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8365:Gtf2i
|
UTSW |
5 |
134,303,434 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8706:Gtf2i
|
UTSW |
5 |
134,278,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8738:Gtf2i
|
UTSW |
5 |
134,324,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Gtf2i
|
UTSW |
5 |
134,269,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8901:Gtf2i
|
UTSW |
5 |
134,324,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Gtf2i
|
UTSW |
5 |
134,278,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9020:Gtf2i
|
UTSW |
5 |
134,275,415 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9092:Gtf2i
|
UTSW |
5 |
134,318,241 (GRCm39) |
makesense |
probably null |
|
|
R9169:Gtf2i
|
UTSW |
5 |
134,271,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Gtf2i
|
UTSW |
5 |
134,292,619 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9333:Gtf2i
|
UTSW |
5 |
134,271,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9346:Gtf2i
|
UTSW |
5 |
134,315,781 (GRCm39) |
missense |
probably benign |
|
|
R9346:Gtf2i
|
UTSW |
5 |
134,273,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Gtf2i
|
UTSW |
5 |
134,294,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9702:Gtf2i
|
UTSW |
5 |
134,275,415 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0022:Gtf2i
|
UTSW |
5 |
134,292,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gtf2i
|
UTSW |
5 |
134,292,499 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGAGAAACCCTTGCTC -3'
(R):5'- GCAGTGTTTGAAGCTTTGCAC -3'
Sequencing Primer
(F):5'- CACTGCATTTACCGTATAGAGGG -3'
(R):5'- CACTTGGGGGTGTTCCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation