Incidental Mutation 'R5379:Gtf2ird2'
| ID |
425743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2ird2
|
| Ensembl Gene |
ENSMUSG00000015942 |
| Gene Name |
GTF2I repeat domain containing 2 |
| Synonyms |
1700012P16Rik |
| MMRRC Submission |
042954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 134246310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 856
(R856P)
|
| 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: R856P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: R856P
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,096,532 (GRCm39) |
L640Q |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,891,721 (GRCm39) |
E32G |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,489,411 (GRCm39) |
M734L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,822,296 (GRCm39) |
D294G |
probably damaging |
Het |
| Baz1a |
T |
G |
12: 54,941,133 (GRCm39) |
D1539A |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,208,520 (GRCm39) |
S141T |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,822,545 (GRCm39) |
V20A |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,375,279 (GRCm39) |
Y187H |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,443 (GRCm39) |
Y362H |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,499,846 (GRCm39) |
G3008* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,008,029 (GRCm39) |
|
probably benign |
Het |
| Dnajb1 |
C |
T |
8: 84,335,135 (GRCm39) |
R59C |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,003,533 (GRCm39) |
K10E |
probably benign |
Het |
| Eif5 |
T |
C |
12: 111,509,989 (GRCm39) |
L311P |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,795,825 (GRCm39) |
F251S |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,998 (GRCm39) |
S620P |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,494,169 (GRCm39) |
V550A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,767 (GRCm39) |
T1091A |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,266,246 (GRCm39) |
|
probably benign |
Het |
| Fndc5 |
A |
T |
4: 129,035,887 (GRCm39) |
I175F |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,881,077 (GRCm39) |
F1481I |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,862 (GRCm39) |
T1211S |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,299,023 (GRCm39) |
V2790M |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,297 (GRCm39) |
Y71C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,711,560 (GRCm39) |
D725G |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,350,371 (GRCm39) |
V754A |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,186,945 (GRCm39) |
T91K |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,190 (GRCm39) |
E1948G |
possibly damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,496 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrc4 |
A |
T |
17: 74,755,078 (GRCm39) |
L46* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,836,010 (GRCm39) |
I160T |
probably benign |
Het |
| Or7g21 |
A |
T |
9: 19,032,373 (GRCm39) |
T38S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,151 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Orm1 |
A |
G |
4: 63,264,230 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
T |
7: 112,178,927 (GRCm39) |
H311L |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,521,493 (GRCm39) |
I370V |
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,092 (GRCm39) |
S154R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,307,771 (GRCm39) |
V344A |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,799,247 (GRCm39) |
K293N |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,083 (GRCm39) |
V423A |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,652,639 (GRCm39) |
Y711N |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,042,309 (GRCm39) |
M498K |
possibly damaging |
Het |
| Sin3a |
T |
C |
9: 57,018,272 (GRCm39) |
M897T |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Srbd1 |
A |
C |
17: 86,308,964 (GRCm39) |
I738S |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,991 (GRCm39) |
V2106A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,638,496 (GRCm39) |
R412G |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,354,843 (GRCm39) |
R8Q |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,952,363 (GRCm39) |
Y548H |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,054 (GRCm39) |
H152L |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,144,051 (GRCm39) |
I586V |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,774,629 (GRCm39) |
T15A |
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 |
|
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'- CCCACGCTGAAATCGGTTTC -3'
(R):5'- GAGGAATGGCCAGATTTCCTTCC -3'
Sequencing Primer
(F):5'- TTTCCCGGAGTGAAAGCGAC -3'
(R):5'- CCTCCGCAGTAGTGGGATTGAAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation