Incidental Mutation 'R7994:Gtf3c2'
ID |
651922 |
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 |
046035-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
R7994 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31327217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 327
(I327V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000201428]
[ENSMUST00000201468]
[ENSMUST00000202300]
[ENSMUST00000202639]
|
AlphaFold |
Q8BL74 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088010
AA Change: I327V
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000085325 Gene: ENSMUSG00000106864 AA Change: I327V
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 |
possibly damaging
Transcript: ENSMUST00000101411
AA Change: I327V
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000098957 Gene: ENSMUSG00000101678 AA Change: I327V
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 |
probably benign
Transcript: ENSMUST00000200871
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201428
|
SMART Domains |
Protein: ENSMUSP00000144212 Gene: ENSMUSG00000106864
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201468
|
SMART Domains |
Protein: ENSMUSP00000144675 Gene: ENSMUSG00000106864
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202300
|
SMART Domains |
Protein: ENSMUSP00000144249 Gene: ENSMUSG00000106864
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202639
AA Change: I370V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144489 Gene: ENSMUSG00000106864 AA Change: I370V
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 |
|
Meta Mutation Damage Score |
0.1167 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
G |
C |
5: 124,220,090 (GRCm39) |
F318L |
probably benign |
Het |
Adad1 |
T |
C |
3: 37,146,120 (GRCm39) |
I496T |
possibly damaging |
Het |
Amotl1 |
T |
A |
9: 14,504,657 (GRCm39) |
N184Y |
probably damaging |
Het |
Asz1 |
T |
C |
6: 18,054,640 (GRCm39) |
I388V |
probably benign |
Het |
Brpf1 |
C |
G |
6: 113,292,002 (GRCm39) |
H349Q |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,242,028 (GRCm39) |
D542G |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,252,501 (GRCm39) |
V870A |
probably damaging |
Het |
Cnga1 |
T |
A |
5: 72,762,003 (GRCm39) |
I504F |
probably damaging |
Het |
Col4a3 |
G |
A |
1: 82,640,627 (GRCm39) |
G315D |
unknown |
Het |
Commd10 |
A |
G |
18: 47,091,986 (GRCm39) |
E11G |
possibly damaging |
Het |
Coq9 |
A |
C |
8: 95,579,785 (GRCm39) |
N247H |
probably benign |
Het |
Cort |
A |
T |
4: 149,209,762 (GRCm39) |
C97S |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,710,702 (GRCm39) |
D403G |
probably damaging |
Het |
Efcab8 |
G |
A |
2: 153,625,724 (GRCm39) |
G128E |
|
Het |
Ercc5 |
T |
C |
1: 44,217,494 (GRCm39) |
S946P |
possibly damaging |
Het |
Fam221b |
C |
T |
4: 43,665,514 (GRCm39) |
V315M |
probably damaging |
Het |
Fam3c |
T |
C |
6: 22,308,459 (GRCm39) |
K245E |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
Gadd45g |
T |
C |
13: 52,001,803 (GRCm39) |
S123P |
possibly damaging |
Het |
Gm49368 |
A |
G |
7: 127,684,818 (GRCm39) |
D396G |
possibly damaging |
Het |
Gsto1 |
G |
A |
19: 47,847,899 (GRCm39) |
R132K |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,795,403 (GRCm39) |
K289E |
possibly damaging |
Het |
Igkv4-80 |
G |
T |
6: 68,993,621 (GRCm39) |
T90N |
probably benign |
Het |
Ilrun |
C |
A |
17: 27,986,917 (GRCm39) |
A270S |
probably benign |
Het |
Madcam1 |
A |
T |
10: 79,504,069 (GRCm39) |
|
probably null |
Het |
Mgat1 |
T |
C |
11: 49,152,770 (GRCm39) |
Y418H |
probably damaging |
Het |
Myh10 |
T |
C |
11: 68,681,070 (GRCm39) |
|
probably null |
Het |
Notch4 |
C |
A |
17: 34,797,064 (GRCm39) |
H937Q |
possibly damaging |
Het |
Npas2 |
G |
T |
1: 39,367,418 (GRCm39) |
C313F |
possibly damaging |
Het |
Nup93 |
A |
G |
8: 95,032,930 (GRCm39) |
M565V |
probably benign |
Het |
Or10al3 |
C |
T |
17: 38,012,326 (GRCm39) |
T255I |
probably damaging |
Het |
Or1x6 |
T |
G |
11: 50,938,967 (GRCm39) |
V11G |
probably benign |
Het |
Or52a5 |
T |
A |
7: 103,426,607 (GRCm39) |
H315L |
probably benign |
Het |
Or56b2j |
T |
A |
7: 104,353,635 (GRCm39) |
V287D |
probably damaging |
Het |
Or6k4 |
G |
T |
1: 173,964,273 (GRCm39) |
|
probably benign |
Het |
Otop1 |
C |
T |
5: 38,457,195 (GRCm39) |
T318I |
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,724 (GRCm39) |
E144G |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,592,230 (GRCm39) |
L18P |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,776 (GRCm39) |
D939G |
probably damaging |
Het |
Prkag3 |
T |
A |
1: 74,786,414 (GRCm39) |
Q177L |
probably benign |
Het |
Rcor3 |
C |
A |
1: 191,785,945 (GRCm39) |
S431I |
probably damaging |
Het |
Scrib |
G |
A |
15: 75,936,431 (GRCm39) |
T475I |
probably damaging |
Het |
Serpinb1a |
T |
A |
13: 33,027,033 (GRCm39) |
D303V |
probably damaging |
Het |
Snrnp25 |
T |
A |
11: 32,157,569 (GRCm39) |
V49E |
probably benign |
Het |
Sobp |
A |
T |
10: 42,897,163 (GRCm39) |
Y807* |
probably null |
Het |
Spata31e4 |
T |
A |
13: 50,856,900 (GRCm39) |
V846D |
probably benign |
Het |
Srcap |
T |
C |
7: 127,140,930 (GRCm39) |
V1570A |
probably benign |
Het |
Srcin1 |
C |
T |
11: 97,422,742 (GRCm39) |
V731M |
probably damaging |
Het |
Syt2 |
A |
T |
1: 134,675,330 (GRCm39) |
M394L |
possibly damaging |
Het |
Tafa4 |
C |
T |
6: 96,840,847 (GRCm39) |
E49K |
probably damaging |
Het |
Tert |
T |
A |
13: 73,797,074 (GRCm39) |
I1104N |
probably benign |
Het |
Ttn |
T |
C |
2: 76,621,439 (GRCm39) |
Y15667C |
probably damaging |
Het |
Twnk |
A |
G |
19: 44,996,277 (GRCm39) |
T237A |
probably benign |
Het |
Zfp157 |
T |
A |
5: 138,453,450 (GRCm39) |
|
probably null |
Het |
Zfp503 |
C |
A |
14: 22,035,074 (GRCm39) |
S614I |
probably damaging |
Het |
Zswim8 |
T |
A |
14: 20,758,072 (GRCm39) |
N52K |
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 |
R4787:Gtf3c2
|
UTSW |
5 |
31,314,921 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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'- GTCTCTGCATATGTGAGCAATTTC -3'
(R):5'- TTCAAGTGCTGGTAGCTGC -3'
Sequencing Primer
(F):5'- TCACCTTAAATGTGGGCAGTACCG -3'
(R):5'- GGTAGCTGCTGTACCCCTAAAC -3'
|
Posted On |
2020-09-15 |