Incidental Mutation 'R4708:Gtf2ird2'
ID |
355404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf2ird2
|
Ensembl Gene |
ENSMUSG00000015942 |
Gene Name |
GTF2I repeat domain containing 2 |
Synonyms |
1700012P16Rik |
MMRRC Submission |
042017-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R4708 (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 134245140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 466
(H466R)
|
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 damaging
Transcript: ENSMUST00000016086
AA Change: H466R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000016086 Gene: ENSMUSG00000015942 AA Change: H466R
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 |
silent
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
G |
A |
7: 41,261,309 (GRCm39) |
G2D |
probably damaging |
Het |
4930505A04Rik |
T |
C |
11: 30,404,717 (GRCm39) |
Y62C |
probably damaging |
Het |
Aadacl4 |
A |
C |
4: 144,349,899 (GRCm39) |
K385N |
probably benign |
Het |
Abcb4 |
A |
T |
5: 8,965,125 (GRCm39) |
T332S |
possibly damaging |
Het |
Aco2 |
G |
A |
15: 81,794,117 (GRCm39) |
|
probably null |
Het |
Aplf |
G |
T |
6: 87,640,739 (GRCm39) |
S69Y |
probably damaging |
Het |
Arhgap27 |
A |
G |
11: 103,224,388 (GRCm39) |
|
probably benign |
Het |
B4galnt1 |
T |
A |
10: 127,005,684 (GRCm39) |
Y262N |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc62 |
T |
G |
5: 124,068,925 (GRCm39) |
|
probably null |
Het |
Cd109 |
T |
A |
9: 78,579,871 (GRCm39) |
I649K |
probably benign |
Het |
Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,359,126 (GRCm39) |
K952R |
probably benign |
Het |
Ces2a |
A |
G |
8: 105,463,938 (GRCm39) |
H190R |
probably benign |
Het |
Clec14a |
A |
G |
12: 58,314,489 (GRCm39) |
S378P |
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,202,150 (GRCm39) |
Q947R |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,395,344 (GRCm39) |
T146A |
probably damaging |
Het |
Dpy19l4 |
T |
A |
4: 11,277,970 (GRCm39) |
M486L |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eif4enif1 |
T |
G |
11: 3,170,323 (GRCm39) |
H125Q |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
Fubp3 |
C |
T |
2: 31,498,122 (GRCm39) |
T92I |
probably benign |
Het |
Gm19426 |
T |
C |
2: 84,573,803 (GRCm39) |
|
probably null |
Het |
Hdac5 |
T |
C |
11: 102,093,019 (GRCm39) |
S573G |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,021,554 (GRCm39) |
M916K |
probably benign |
Het |
Insr |
A |
T |
8: 3,261,346 (GRCm39) |
|
probably benign |
Het |
Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
Ivl |
T |
A |
3: 92,479,057 (GRCm39) |
K336I |
probably damaging |
Het |
Kcng2 |
A |
G |
18: 80,366,067 (GRCm39) |
I95T |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,668,480 (GRCm39) |
R431G |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,005 (GRCm39) |
H115R |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,670,126 (GRCm39) |
V767A |
probably benign |
Het |
Mttp |
A |
G |
3: 137,839,859 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nat9 |
G |
A |
11: 115,074,269 (GRCm39) |
T133M |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,714 (GRCm39) |
I349T |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,163,533 (GRCm39) |
E900G |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,084,265 (GRCm39) |
M438K |
probably benign |
Het |
Or2y14 |
T |
A |
11: 49,405,216 (GRCm39) |
Y250* |
probably null |
Het |
Or52p2 |
A |
T |
7: 102,237,043 (GRCm39) |
D302E |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,261 (GRCm39) |
I41F |
probably benign |
Het |
Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
Pde6c |
G |
A |
19: 38,169,341 (GRCm39) |
E804K |
possibly damaging |
Het |
Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,735,067 (GRCm39) |
W216R |
probably damaging |
Het |
Rhof |
T |
A |
5: 123,258,454 (GRCm39) |
T126S |
probably benign |
Het |
Riox2 |
A |
G |
16: 59,296,045 (GRCm39) |
I49V |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,873,852 (GRCm39) |
V345A |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,989,790 (GRCm39) |
V372A |
probably benign |
Het |
Spata31e2 |
A |
T |
1: 26,723,521 (GRCm39) |
V553D |
possibly damaging |
Het |
Tmc6 |
A |
T |
11: 117,659,774 (GRCm39) |
C750S |
probably benign |
Het |
Tmem231 |
C |
A |
8: 112,660,418 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
T |
A |
11: 115,677,121 (GRCm39) |
I131N |
possibly damaging |
Het |
Tmx3 |
T |
C |
18: 90,539,163 (GRCm39) |
|
probably null |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,123 (GRCm39) |
T245I |
possibly damaging |
Het |
Ttbk2 |
C |
A |
2: 120,570,342 (GRCm39) |
R1201S |
probably damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,914,576 (GRCm39) |
M714L |
probably benign |
Het |
Vmn2r109 |
A |
G |
17: 20,761,605 (GRCm39) |
L584S |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
Vnn1 |
T |
A |
10: 23,773,250 (GRCm39) |
D92E |
probably benign |
Het |
Zan |
T |
C |
5: 137,444,974 (GRCm39) |
I1762V |
unknown |
Het |
Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,310,563 (GRCm39) |
|
probably null |
Het |
Zfp560 |
T |
C |
9: 20,263,214 (GRCm39) |
E54G |
possibly damaging |
Het |
Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
Zmynd11 |
A |
C |
13: 9,745,789 (GRCm39) |
V188G |
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 |
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 |
|
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'- TTAGGGAGTTGCCAAGTCACC -3'
(R):5'- AGGAGCGGATTTTCTGTCTTAAC -3'
Sequencing Primer
(F):5'- CCATTCCATGTCTCTATAAAGTGGGG -3'
(R):5'- AACTTCTCCCATAAGCTCCCGG -3'
|
Posted On |
2015-10-21 |