Incidental Mutation 'R0100:Gtf2ird2'
| ID |
17918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2ird2
|
| Ensembl Gene |
ENSMUSG00000015942 |
| Gene Name |
GTF2I repeat domain containing 2 |
| Synonyms |
1700012P16Rik |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134245857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 705
(L705P)
|
| 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: L705P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: L705P
| 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: 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: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
| Validation Efficiency |
89% (68/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,885,538 (GRCm39) |
I681T |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,240,542 (GRCm39) |
H793R |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,053,750 (GRCm39) |
I351V |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,344,716 (GRCm39) |
S4P |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,378,141 (GRCm39) |
D119G |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hgs |
T |
G |
11: 120,373,678 (GRCm39) |
Y708D |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,629,999 (GRCm39) |
N1230I |
probably damaging |
Het |
| Mindy2 |
C |
A |
9: 70,514,731 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,046,175 (GRCm39) |
E586A |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,923 (GRCm39) |
N303I |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekha6 |
T |
C |
1: 133,197,915 (GRCm39) |
S271P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,860,373 (GRCm39) |
N313K |
possibly damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,685,034 (GRCm39) |
S261L |
probably benign |
Het |
| Spint5 |
T |
A |
2: 164,558,920 (GRCm39) |
C49S |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Thoc6 |
A |
T |
17: 23,888,824 (GRCm39) |
W195R |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,882,821 (GRCm39) |
D342E |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,529 (GRCm39) |
S20P |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly 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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-03-25 |
Incidental Mutation