Incidental Mutation 'R5261:Gtf2ird2'
ID |
401429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf2ird2
|
Ensembl Gene |
ENSMUSG00000015942 |
Gene Name |
GTF2I repeat domain containing 2 |
Synonyms |
1700012P16Rik |
MMRRC Submission |
042830-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R5261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134245061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 440
(I440V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016086]
[ENSMUST00000016094]
[ENSMUST00000111275]
[ENSMUST00000123941]
[ENSMUST00000144086]
[ENSMUST00000152587]
[ENSMUST00000146354]
|
AlphaFold |
Q99NI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016086
AA Change: I440V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000016086 Gene: ENSMUSG00000015942 AA Change: I440V
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 |
probably benign
Transcript: ENSMUST00000152587
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
96% (64/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
C |
G |
2: 152,282,777 (GRCm39) |
P211A |
probably damaging |
Het |
Ambra1 |
G |
A |
2: 91,715,951 (GRCm39) |
V761M |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,702,798 (GRCm39) |
|
probably null |
Het |
Asphd1 |
C |
A |
7: 126,545,287 (GRCm39) |
A357S |
probably benign |
Het |
Brd3 |
C |
A |
2: 27,353,931 (GRCm39) |
Q60H |
probably damaging |
Het |
Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,406,125 (GRCm39) |
H1469L |
probably benign |
Het |
Coro1a |
G |
T |
7: 126,299,816 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,171,555 (GRCm39) |
L871Q |
probably benign |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,099,075 (GRCm39) |
D467A |
probably damaging |
Het |
Extl2 |
G |
A |
3: 115,821,013 (GRCm39) |
A273T |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,937,500 (GRCm39) |
F218Y |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,194,166 (GRCm39) |
M521V |
probably benign |
Het |
Gpr142 |
T |
A |
11: 114,695,168 (GRCm39) |
N44K |
probably damaging |
Het |
Gucy1b2 |
T |
A |
14: 62,642,028 (GRCm39) |
K698I |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,177,983 (GRCm39) |
M1V |
probably null |
Het |
Ints9 |
T |
A |
14: 65,245,521 (GRCm39) |
Y260N |
probably benign |
Het |
Khdc3 |
T |
G |
9: 73,010,768 (GRCm39) |
V182G |
possibly damaging |
Het |
Ky |
A |
G |
9: 102,414,798 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
A |
9: 64,098,843 (GRCm39) |
I263F |
probably damaging |
Het |
Or13a18 |
A |
C |
7: 140,190,576 (GRCm39) |
I166L |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,877 (GRCm39) |
S63G |
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,269,241 (GRCm39) |
V87A |
probably benign |
Het |
Otogl |
T |
A |
10: 107,613,453 (GRCm39) |
H2004L |
probably benign |
Het |
Palmd |
T |
C |
3: 116,717,009 (GRCm39) |
H496R |
probably benign |
Het |
Papolb |
C |
G |
5: 142,515,409 (GRCm39) |
R78P |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,336,247 (GRCm39) |
G854R |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,101,976 (GRCm39) |
I1054V |
probably benign |
Het |
Pik3ap1 |
A |
T |
19: 41,364,545 (GRCm39) |
L58Q |
probably damaging |
Het |
Ppp2ca |
A |
G |
11: 51,989,937 (GRCm39) |
K21R |
probably benign |
Het |
Prmt5 |
A |
C |
14: 54,745,373 (GRCm39) |
I598S |
probably damaging |
Het |
Pycr1 |
T |
A |
11: 120,532,050 (GRCm39) |
I239F |
probably damaging |
Het |
R3hdm2 |
C |
T |
10: 127,334,285 (GRCm39) |
R896C |
probably damaging |
Het |
Rev3l |
C |
T |
10: 39,722,725 (GRCm39) |
P699S |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Sel1l |
A |
T |
12: 91,791,658 (GRCm39) |
M351K |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,226,617 (GRCm39) |
L159P |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,540,946 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
C |
A |
17: 85,359,403 (GRCm39) |
N409K |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slco1c1 |
T |
C |
6: 141,492,502 (GRCm39) |
F246S |
probably damaging |
Het |
Socs2 |
T |
G |
10: 95,228,681 (GRCm39) |
I190L |
unknown |
Het |
Srsf1 |
T |
A |
11: 87,938,684 (GRCm39) |
I7N |
possibly damaging |
Het |
Stox1 |
T |
A |
10: 62,503,620 (GRCm39) |
H145L |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,874,286 (GRCm39) |
I243N |
probably damaging |
Het |
Trav7-3 |
T |
C |
14: 53,681,207 (GRCm39) |
I83T |
probably benign |
Het |
Trmt9b |
T |
C |
8: 36,979,078 (GRCm39) |
I227T |
probably benign |
Het |
Tuft1 |
A |
T |
3: 94,546,712 (GRCm39) |
I42K |
possibly damaging |
Het |
Umps |
A |
G |
16: 33,787,344 (GRCm39) |
V3A |
probably benign |
Het |
Vim |
A |
C |
2: 13,579,643 (GRCm39) |
E134A |
probably null |
Het |
Vmn1r28 |
C |
A |
6: 58,242,524 (GRCm39) |
H122Q |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vsig10l |
T |
A |
7: 43,120,274 (GRCm39) |
V760D |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,927,596 (GRCm39) |
D1460G |
probably benign |
Het |
Zfp282 |
A |
G |
6: 47,874,824 (GRCm39) |
D343G |
probably damaging |
Het |
Zfp35 |
A |
G |
18: 24,136,778 (GRCm39) |
H374R |
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 |
R5379:Gtf2ird2
|
UTSW |
5 |
134,246,310 (GRCm39) |
missense |
probably benign |
|
R5921:Gtf2ird2
|
UTSW |
5 |
134,246,426 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CAGGACAACCGGAGCTATGTA -3'
(R):5'- TAAGCTCCCGGCCACCTC -3'
Sequencing Primer
(F):5'- CGGAGCTATGTAGAAATACCCTGTC -3'
(R):5'- AATGGTTGCTCTGGACACAC -3'
|
Posted On |
2016-07-06 |