Incidental Mutation 'R4787:Gtf3c2'
ID |
367166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf3c2
|
Ensembl Gene |
ENSMUSG00000106864 |
Gene Name |
general transcription factor IIIC, polypeptide 2, beta |
Synonyms |
2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA |
MMRRC Submission |
041975-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
R4787 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31314921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 942
(S942N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000202639]
[ENSMUST00000202241]
[ENSMUST00000200833]
[ENSMUST00000201353]
[ENSMUST00000200864]
[ENSMUST00000201491]
|
AlphaFold |
Q8BL74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088010
AA Change: S899N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000085325 Gene: ENSMUSG00000106864 AA Change: S899N
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
low complexity region
|
207 |
225 |
N/A |
INTRINSIC |
low complexity region
|
249 |
268 |
N/A |
INTRINSIC |
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
WD40
|
452 |
508 |
6.39e0 |
SMART |
WD40
|
530 |
580 |
1.6e0 |
SMART |
WD40
|
598 |
638 |
3.37e-6 |
SMART |
WD40
|
821 |
861 |
5.33e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101411
|
SMART Domains |
Protein: ENSMUSP00000098957 Gene: ENSMUSG00000101678
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
low complexity region
|
207 |
225 |
N/A |
INTRINSIC |
low complexity region
|
249 |
268 |
N/A |
INTRINSIC |
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
WD40
|
452 |
508 |
6.39e0 |
SMART |
WD40
|
530 |
580 |
1.6e0 |
SMART |
WD40
|
598 |
638 |
3.37e-6 |
SMART |
Blast:WD40
|
807 |
844 |
2e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126745
AA Change: S258N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136581
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151370
AA Change: S1049N
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154241
|
SMART Domains |
Protein: ENSMUSP00000115292 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:Mpv17_PMP22
|
108 |
175 |
2.2e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200744
|
SMART Domains |
Protein: ENSMUSP00000143843 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:Mpv17_PMP22
|
103 |
163 |
5.7e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201423
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202639
AA Change: S942N
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000144489 Gene: ENSMUSG00000106864 AA Change: S942N
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
low complexity region
|
250 |
268 |
N/A |
INTRINSIC |
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
WD40
|
495 |
551 |
6.39e0 |
SMART |
WD40
|
573 |
623 |
1.6e0 |
SMART |
WD40
|
641 |
681 |
3.37e-6 |
SMART |
WD40
|
864 |
904 |
5.33e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202614
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202375
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202241
|
SMART Domains |
Protein: ENSMUSP00000144119 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:Mpv17_PMP22
|
109 |
176 |
4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200833
|
SMART Domains |
Protein: ENSMUSP00000144324 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201353
|
SMART Domains |
Protein: ENSMUSP00000144198 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:Mpv17_PMP22
|
109 |
174 |
1.7e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200864
|
SMART Domains |
Protein: ENSMUSP00000144331 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:Mpv17_PMP22
|
109 |
174 |
1.7e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201491
|
SMART Domains |
Protein: ENSMUSP00000144593 Gene: ENSMUSG00000107283
Domain | Start | End | E-Value | Type |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:Mpv17_PMP22
|
109 |
155 |
4.6e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
C |
A |
8: 73,199,008 (GRCm39) |
Y138* |
probably null |
Het |
4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
Amy2b |
T |
C |
3: 113,058,634 (GRCm39) |
|
noncoding transcript |
Het |
Anxa1 |
T |
A |
19: 20,351,118 (GRCm39) |
D334V |
probably damaging |
Het |
Atoh8 |
T |
C |
6: 72,200,761 (GRCm39) |
T310A |
possibly damaging |
Het |
BC002059 |
G |
A |
17: 17,193,810 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc40 |
A |
G |
11: 119,144,447 (GRCm39) |
D924G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,921,422 (GRCm39) |
M433L |
probably benign |
Het |
Cd209e |
T |
C |
8: 3,901,181 (GRCm39) |
S158G |
probably null |
Het |
Cdkn2a |
C |
T |
4: 89,194,955 (GRCm39) |
R153H |
unknown |
Het |
Cfap69 |
A |
G |
5: 5,696,934 (GRCm39) |
|
probably null |
Het |
Col6a5 |
T |
C |
9: 105,808,280 (GRCm39) |
T923A |
unknown |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Ddrgk1 |
A |
G |
2: 130,500,248 (GRCm39) |
F216S |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,180,310 (GRCm39) |
C1995* |
probably null |
Het |
Epb41l5 |
G |
A |
1: 119,523,725 (GRCm39) |
P467S |
probably benign |
Het |
Extl1 |
G |
A |
4: 134,091,978 (GRCm39) |
L292F |
probably damaging |
Het |
Fsd1 |
A |
G |
17: 56,303,257 (GRCm39) |
N409D |
possibly damaging |
Het |
Gm15455 |
A |
T |
1: 33,876,803 (GRCm39) |
|
noncoding transcript |
Het |
Gm8894 |
A |
G |
14: 55,658,172 (GRCm39) |
|
noncoding transcript |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,041 (GRCm39) |
|
noncoding transcript |
Het |
H2-Ab1 |
A |
T |
17: 34,486,441 (GRCm39) |
T167S |
possibly damaging |
Het |
Ighv8-9 |
C |
T |
12: 115,432,134 (GRCm39) |
R59H |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,228,752 (GRCm39) |
V171I |
probably benign |
Het |
Il31ra |
C |
T |
13: 112,664,079 (GRCm39) |
E533K |
possibly damaging |
Het |
Iqgap1 |
A |
C |
7: 80,385,261 (GRCm39) |
L1022R |
probably damaging |
Het |
Kcna4 |
T |
C |
2: 107,126,813 (GRCm39) |
F516L |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,668,081 (GRCm39) |
T47A |
possibly damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,548,175 (GRCm39) |
|
probably benign |
Het |
Ldhb-ps |
C |
A |
19: 21,915,601 (GRCm39) |
|
noncoding transcript |
Het |
Lipo3 |
T |
A |
19: 33,757,749 (GRCm39) |
Q240L |
probably benign |
Het |
Lpar5 |
A |
G |
6: 125,059,461 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
A |
G |
15: 91,597,031 (GRCm39) |
D541G |
probably benign |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Meig1 |
A |
G |
2: 3,410,251 (GRCm39) |
V83A |
possibly damaging |
Het |
Natd1 |
A |
C |
11: 60,797,822 (GRCm39) |
C34W |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,178,996 (GRCm39) |
C689S |
probably damaging |
Het |
Or4c104 |
T |
A |
2: 88,586,219 (GRCm39) |
K267* |
probably null |
Het |
Or52u1 |
T |
C |
7: 104,237,167 (GRCm39) |
M52T |
probably benign |
Het |
Or5d35 |
T |
C |
2: 87,855,204 (GRCm39) |
M46T |
possibly damaging |
Het |
Or6a2 |
G |
A |
7: 106,600,293 (GRCm39) |
A258V |
probably benign |
Het |
Pdgfrb |
A |
C |
18: 61,212,759 (GRCm39) |
S888R |
probably damaging |
Het |
Plppr4 |
T |
C |
3: 117,115,979 (GRCm39) |
E626G |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 44,990,050 (GRCm39) |
A1159S |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,450 (GRCm39) |
K74* |
probably null |
Het |
Prex1 |
A |
G |
2: 166,480,260 (GRCm39) |
V160A |
probably benign |
Het |
Psmb7 |
C |
T |
2: 38,478,283 (GRCm39) |
C247Y |
probably benign |
Het |
Rbm33 |
C |
T |
5: 28,547,435 (GRCm39) |
|
probably null |
Het |
Rfc5 |
T |
C |
5: 117,520,485 (GRCm39) |
T236A |
probably benign |
Het |
Sdk1 |
G |
T |
5: 141,568,168 (GRCm39) |
R122L |
probably benign |
Het |
Sh3bp1 |
T |
C |
15: 78,792,195 (GRCm39) |
S451P |
possibly damaging |
Het |
Smap1 |
G |
T |
1: 23,888,347 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,462,927 (GRCm39) |
V639E |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,711,765 (GRCm39) |
Q511L |
possibly damaging |
Het |
Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
Tbc1d17 |
G |
A |
7: 44,492,488 (GRCm39) |
P392S |
probably benign |
Het |
Tef |
T |
A |
15: 81,707,758 (GRCm39) |
I261N |
probably damaging |
Het |
Tmbim1 |
T |
C |
1: 74,334,519 (GRCm39) |
N14D |
possibly damaging |
Het |
Tmprss11c |
T |
C |
5: 86,404,312 (GRCm39) |
K121R |
probably benign |
Het |
Trim36 |
C |
A |
18: 46,305,599 (GRCm39) |
M461I |
probably benign |
Het |
Trpc1 |
T |
A |
9: 95,603,468 (GRCm39) |
M355L |
probably benign |
Het |
Tspyl4 |
A |
C |
10: 34,173,760 (GRCm39) |
D84A |
probably benign |
Het |
Twf1 |
G |
T |
15: 94,482,315 (GRCm39) |
P144T |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,392 (GRCm39) |
C184R |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,013,257 (GRCm39) |
P283S |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,796,860 (GRCm39) |
C49R |
probably benign |
Het |
Wdr11 |
T |
A |
7: 129,210,658 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,152,816 (GRCm39) |
M97K |
possibly damaging |
Het |
|
Other mutations in Gtf3c2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00725:Gtf3c2
|
APN |
5 |
31,331,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00832:Gtf3c2
|
APN |
5 |
31,330,349 (GRCm39) |
unclassified |
probably benign |
|
IGL00904:Gtf3c2
|
APN |
5 |
31,330,202 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00966:Gtf3c2
|
APN |
5 |
31,327,517 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
IGL01061:Gtf3c2
|
APN |
5 |
31,325,698 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01148:Gtf3c2
|
APN |
5 |
31,317,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01767:Gtf3c2
|
APN |
5 |
31,314,979 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02237:Gtf3c2
|
APN |
5 |
31,316,397 (GRCm39) |
splice site |
probably benign |
|
IGL02458:Gtf3c2
|
APN |
5 |
31,316,867 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02888:Gtf3c2
|
APN |
5 |
31,331,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03035:Gtf3c2
|
APN |
5 |
31,323,358 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL03131:Gtf3c2
|
APN |
5 |
31,314,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R0534:Gtf3c2
|
UTSW |
5 |
31,315,476 (GRCm39) |
splice site |
probably benign |
|
R0581:Gtf3c2
|
UTSW |
5 |
31,316,862 (GRCm39) |
nonsense |
probably null |
|
R0634:Gtf3c2
|
UTSW |
5 |
31,317,150 (GRCm39) |
nonsense |
probably null |
|
R1172:Gtf3c2
|
UTSW |
5 |
31,325,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Gtf3c2
|
UTSW |
5 |
31,316,446 (GRCm39) |
missense |
probably benign |
0.15 |
R1680:Gtf3c2
|
UTSW |
5 |
31,331,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1726:Gtf3c2
|
UTSW |
5 |
31,326,467 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1831:Gtf3c2
|
UTSW |
5 |
31,325,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Gtf3c2
|
UTSW |
5 |
31,325,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R2437:Gtf3c2
|
UTSW |
5 |
31,317,042 (GRCm39) |
critical splice donor site |
probably null |
|
R4732:Gtf3c2
|
UTSW |
5 |
31,317,401 (GRCm39) |
missense |
probably damaging |
0.97 |
R4733:Gtf3c2
|
UTSW |
5 |
31,317,401 (GRCm39) |
missense |
probably damaging |
0.97 |
R4817:Gtf3c2
|
UTSW |
5 |
31,331,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4863:Gtf3c2
|
UTSW |
5 |
31,316,577 (GRCm39) |
intron |
probably benign |
|
R4926:Gtf3c2
|
UTSW |
5 |
31,326,467 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5508:Gtf3c2
|
UTSW |
5 |
31,331,805 (GRCm39) |
nonsense |
probably null |
|
R5704:Gtf3c2
|
UTSW |
5 |
31,316,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R5737:Gtf3c2
|
UTSW |
5 |
31,325,593 (GRCm39) |
critical splice donor site |
probably null |
|
R5868:Gtf3c2
|
UTSW |
5 |
31,325,425 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6174:Gtf3c2
|
UTSW |
5 |
31,315,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6705:Gtf3c2
|
UTSW |
5 |
31,323,352 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6782:Gtf3c2
|
UTSW |
5 |
31,327,180 (GRCm39) |
missense |
probably benign |
0.01 |
R6893:Gtf3c2
|
UTSW |
5 |
31,323,722 (GRCm39) |
missense |
probably benign |
0.06 |
R7363:Gtf3c2
|
UTSW |
5 |
31,327,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R7474:Gtf3c2
|
UTSW |
5 |
31,325,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Gtf3c2
|
UTSW |
5 |
31,330,341 (GRCm39) |
missense |
probably benign |
|
R7685:Gtf3c2
|
UTSW |
5 |
31,325,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R7711:Gtf3c2
|
UTSW |
5 |
31,327,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Gtf3c2
|
UTSW |
5 |
31,330,175 (GRCm39) |
missense |
probably benign |
0.38 |
R7825:Gtf3c2
|
UTSW |
5 |
31,315,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R7994:Gtf3c2
|
UTSW |
5 |
31,327,217 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8430:Gtf3c2
|
UTSW |
5 |
31,330,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R8772:Gtf3c2
|
UTSW |
5 |
31,331,758 (GRCm39) |
missense |
probably benign |
0.26 |
R8950:Gtf3c2
|
UTSW |
5 |
31,331,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Gtf3c2
|
UTSW |
5 |
31,326,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R9451:Gtf3c2
|
UTSW |
5 |
31,325,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGCTGTGACCATAGAAGTC -3'
(R):5'- AGGTACGCTTCAGCCCAAAC -3'
Sequencing Primer
(F):5'- TCTGTGGAAGGAGAGGGATTTAAG -3'
(R):5'- CAAACCTGGACTCCTATGGATGG -3'
|
Posted On |
2015-12-29 |