Incidental Mutation 'R5921:Gtf2ird2'
ID |
461574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf2ird2
|
Ensembl Gene |
ENSMUSG00000015942 |
Gene Name |
GTF2I repeat domain containing 2 |
Synonyms |
1700012P16Rik |
MMRRC Submission |
044118-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R5921 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 134246426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 895
(Y895N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016086]
[ENSMUST00000016094]
[ENSMUST00000111275]
[ENSMUST00000123941]
[ENSMUST00000144086]
[ENSMUST00000146354]
[ENSMUST00000152587]
|
AlphaFold |
Q99NI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016086
AA Change: Y895N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000016086 Gene: ENSMUSG00000015942 AA Change: Y895N
Domain | Start | End | E-Value | Type |
Pfam:GTF2I
|
104 |
178 |
6.1e-31 |
PFAM |
Pfam:GTF2I
|
328 |
402 |
1.6e-25 |
PFAM |
Blast:Tryp_SPc
|
436 |
491 |
4e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000016094
|
SMART Domains |
Protein: ENSMUSP00000016094 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
Pfam:p47_phox_C
|
332 |
403 |
1.3e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111275
|
SMART Domains |
Protein: ENSMUSP00000106906 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128842
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135588
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144086
|
SMART Domains |
Protein: ENSMUSP00000138547 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
low complexity region
|
336 |
344 |
N/A |
INTRINSIC |
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146354
|
SMART Domains |
Protein: ENSMUSP00000138121 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152587
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
95% (70/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 35,969,555 (GRCm39) |
V223M |
probably damaging |
Het |
Adamts7 |
T |
C |
9: 90,070,747 (GRCm39) |
S623P |
probably benign |
Het |
Aqp7 |
G |
T |
4: 41,036,093 (GRCm39) |
N48K |
probably benign |
Het |
Asic4 |
A |
G |
1: 75,428,017 (GRCm39) |
N181S |
probably benign |
Het |
Blvra |
A |
T |
2: 126,929,283 (GRCm39) |
|
probably benign |
Het |
Bmf |
C |
A |
2: 118,363,034 (GRCm39) |
|
probably benign |
Het |
Bnc2 |
A |
T |
4: 84,211,292 (GRCm39) |
I454N |
possibly damaging |
Het |
Catsperg1 |
A |
T |
7: 28,889,948 (GRCm39) |
L700H |
possibly damaging |
Het |
Ccdc14 |
T |
C |
16: 34,526,761 (GRCm39) |
V222A |
probably damaging |
Het |
Cfap97d2 |
G |
T |
8: 13,784,840 (GRCm39) |
A34S |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,408,539 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,300,602 (GRCm39) |
I1066F |
probably damaging |
Het |
Dcdc2c |
T |
C |
12: 28,574,774 (GRCm39) |
E116G |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,383,975 (GRCm39) |
S310N |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,584,802 (GRCm39) |
V735E |
probably damaging |
Het |
Eva1a |
T |
C |
6: 82,069,140 (GRCm39) |
Y156H |
probably damaging |
Het |
Fbxw26 |
A |
G |
9: 109,575,086 (GRCm39) |
I13T |
probably damaging |
Het |
Fermt2 |
A |
T |
14: 45,702,203 (GRCm39) |
L527Q |
probably damaging |
Het |
Fxyd4 |
G |
A |
6: 117,913,099 (GRCm39) |
|
probably benign |
Het |
Gal |
A |
G |
19: 3,460,100 (GRCm39) |
S124P |
probably damaging |
Het |
Glmp |
T |
C |
3: 88,233,283 (GRCm39) |
S56P |
probably benign |
Het |
Gm5600 |
T |
C |
7: 113,307,413 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
A |
G |
2: 32,187,767 (GRCm39) |
N194S |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,254 (GRCm39) |
|
probably benign |
Het |
Hsd3b1 |
C |
A |
3: 98,765,215 (GRCm39) |
M22I |
probably benign |
Het |
Ipo13 |
A |
C |
4: 117,769,286 (GRCm39) |
L169V |
probably benign |
Het |
Kif13a |
G |
T |
13: 46,978,776 (GRCm39) |
T208K |
probably damaging |
Het |
Klhl5 |
G |
T |
5: 65,320,299 (GRCm39) |
A618S |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,370,070 (GRCm39) |
L496* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,420,504 (GRCm39) |
I250T |
probably benign |
Het |
Man1a |
A |
G |
10: 53,783,606 (GRCm39) |
I632T |
probably damaging |
Het |
Nav2 |
A |
G |
7: 48,954,324 (GRCm39) |
|
probably benign |
Het |
Nek8 |
A |
G |
11: 78,063,885 (GRCm39) |
M40T |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,908,046 (GRCm39) |
D298G |
probably damaging |
Het |
Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
Or14j4 |
A |
T |
17: 37,921,110 (GRCm39) |
C177* |
probably null |
Het |
Or8s5 |
T |
C |
15: 98,238,310 (GRCm39) |
T187A |
probably benign |
Het |
Or9s13 |
T |
A |
1: 92,548,344 (GRCm39) |
S239T |
probably benign |
Het |
Pafah2 |
G |
T |
4: 134,145,380 (GRCm39) |
V255L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
Pirb |
A |
C |
7: 3,719,693 (GRCm39) |
Y484* |
probably null |
Het |
Prl8a6 |
A |
G |
13: 27,621,171 (GRCm39) |
S20P |
probably damaging |
Het |
R3hdm4 |
A |
T |
10: 79,749,453 (GRCm39) |
V52E |
probably damaging |
Het |
Rab3ip |
A |
G |
10: 116,775,152 (GRCm39) |
Y69H |
probably damaging |
Het |
Rxrg |
T |
C |
1: 167,466,808 (GRCm39) |
M330T |
possibly damaging |
Het |
Sema4g |
G |
T |
19: 44,987,143 (GRCm39) |
G460V |
probably benign |
Het |
Sidt1 |
T |
C |
16: 44,094,098 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,065,595 (GRCm39) |
D943E |
probably benign |
Het |
Slc12a4 |
T |
C |
8: 106,671,876 (GRCm39) |
|
probably null |
Het |
Slc4a3 |
T |
G |
1: 75,534,088 (GRCm39) |
|
probably null |
Het |
Slc4a8 |
C |
T |
15: 100,712,328 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,158,005 (GRCm39) |
|
probably benign |
Het |
Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
Tbc1d5 |
G |
A |
17: 51,270,721 (GRCm39) |
T170M |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,538 (GRCm39) |
F185Y |
probably benign |
Het |
Ttc17 |
A |
G |
2: 94,209,193 (GRCm39) |
V87A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,551,207 (GRCm39) |
M31395K |
possibly damaging |
Het |
Usp34 |
T |
A |
11: 23,414,686 (GRCm39) |
D2876E |
probably damaging |
Het |
Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,546,030 (GRCm39) |
L634Q |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,477,336 (GRCm39) |
A355T |
probably benign |
Het |
Xpo5 |
A |
T |
17: 46,532,347 (GRCm39) |
M461L |
probably benign |
Het |
Zfp759 |
T |
A |
13: 67,288,558 (GRCm39) |
F703Y |
probably damaging |
Het |
|
Other mutations in Gtf2ird2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01143:Gtf2ird2
|
APN |
5 |
134,225,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01295:Gtf2ird2
|
APN |
5 |
134,221,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01603:Gtf2ird2
|
APN |
5 |
134,231,129 (GRCm39) |
splice site |
probably benign |
|
IGL01824:Gtf2ird2
|
APN |
5 |
134,226,123 (GRCm39) |
splice site |
probably benign |
|
IGL02469:Gtf2ird2
|
APN |
5 |
134,220,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02525:Gtf2ird2
|
APN |
5 |
134,245,319 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02567:Gtf2ird2
|
APN |
5 |
134,241,890 (GRCm39) |
unclassified |
probably benign |
|
IGL02750:Gtf2ird2
|
APN |
5 |
134,245,731 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02992:Gtf2ird2
|
APN |
5 |
134,246,456 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL03000:Gtf2ird2
|
APN |
5 |
134,223,745 (GRCm39) |
missense |
probably benign |
0.45 |
IGL03114:Gtf2ird2
|
APN |
5 |
134,245,752 (GRCm39) |
splice site |
probably null |
|
IGL03180:Gtf2ird2
|
APN |
5 |
134,220,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0077:Gtf2ird2
|
UTSW |
5 |
134,242,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Gtf2ird2
|
UTSW |
5 |
134,245,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R0100:Gtf2ird2
|
UTSW |
5 |
134,245,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R0344:Gtf2ird2
|
UTSW |
5 |
134,220,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Gtf2ird2
|
UTSW |
5 |
134,240,083 (GRCm39) |
nonsense |
probably null |
|
R0570:Gtf2ird2
|
UTSW |
5 |
134,237,785 (GRCm39) |
critical splice donor site |
probably null |
|
R0730:Gtf2ird2
|
UTSW |
5 |
134,221,597 (GRCm39) |
nonsense |
probably null |
|
R0826:Gtf2ird2
|
UTSW |
5 |
134,245,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Gtf2ird2
|
UTSW |
5 |
134,245,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Gtf2ird2
|
UTSW |
5 |
134,240,081 (GRCm39) |
missense |
probably benign |
0.26 |
R2064:Gtf2ird2
|
UTSW |
5 |
134,245,340 (GRCm39) |
nonsense |
probably null |
|
R2284:Gtf2ird2
|
UTSW |
5 |
134,246,025 (GRCm39) |
missense |
probably benign |
0.05 |
R2375:Gtf2ird2
|
UTSW |
5 |
134,245,977 (GRCm39) |
missense |
probably benign |
0.20 |
R3104:Gtf2ird2
|
UTSW |
5 |
134,237,756 (GRCm39) |
missense |
probably benign |
0.42 |
R4436:Gtf2ird2
|
UTSW |
5 |
134,223,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4647:Gtf2ird2
|
UTSW |
5 |
134,245,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Gtf2ird2
|
UTSW |
5 |
134,245,140 (GRCm39) |
missense |
probably damaging |
0.99 |
R4775:Gtf2ird2
|
UTSW |
5 |
134,242,970 (GRCm39) |
missense |
probably benign |
0.01 |
R4999:Gtf2ird2
|
UTSW |
5 |
134,246,306 (GRCm39) |
missense |
probably damaging |
0.97 |
R5011:Gtf2ird2
|
UTSW |
5 |
134,245,824 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5036:Gtf2ird2
|
UTSW |
5 |
134,246,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R5261:Gtf2ird2
|
UTSW |
5 |
134,245,061 (GRCm39) |
missense |
probably benign |
0.00 |
R5379:Gtf2ird2
|
UTSW |
5 |
134,246,310 (GRCm39) |
missense |
probably benign |
|
R6180:Gtf2ird2
|
UTSW |
5 |
134,245,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6483:Gtf2ird2
|
UTSW |
5 |
134,240,066 (GRCm39) |
missense |
probably benign |
0.00 |
R7355:Gtf2ird2
|
UTSW |
5 |
134,245,491 (GRCm39) |
missense |
probably benign |
0.24 |
R7475:Gtf2ird2
|
UTSW |
5 |
134,230,267 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7566:Gtf2ird2
|
UTSW |
5 |
134,242,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8021:Gtf2ird2
|
UTSW |
5 |
134,232,175 (GRCm39) |
missense |
probably benign |
|
R8701:Gtf2ird2
|
UTSW |
5 |
134,245,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8756:Gtf2ird2
|
UTSW |
5 |
134,226,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8898:Gtf2ird2
|
UTSW |
5 |
134,226,106 (GRCm39) |
missense |
probably benign |
|
R8932:Gtf2ird2
|
UTSW |
5 |
134,237,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8946:Gtf2ird2
|
UTSW |
5 |
134,245,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Gtf2ird2
|
UTSW |
5 |
134,245,596 (GRCm39) |
missense |
probably damaging |
0.98 |
R9065:Gtf2ird2
|
UTSW |
5 |
134,225,407 (GRCm39) |
missense |
probably damaging |
0.99 |
R9288:Gtf2ird2
|
UTSW |
5 |
134,221,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9566:Gtf2ird2
|
UTSW |
5 |
134,246,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAAGTCGTGTGAGAGCGAG -3'
(R):5'- TAGAGGAATGGCCAGATTTCC -3'
Sequencing Primer
(F):5'- AGAGCGAGCTCACCCTGTTC -3'
(R):5'- GGTATTGATAGGTAGCCCAAGC -3'
|
Posted On |
2017-02-28 |