Incidental Mutation 'IGL01767:Gtf3c2'
| ID |
153374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf3c2
|
| Ensembl Gene |
ENSMUSG00000106864 |
| Gene Name |
general transcription factor IIIC, polypeptide 2, beta |
| Synonyms |
2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
IGL01767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31314979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 923
(N923Y)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000200833]
[ENSMUST00000202639]
[ENSMUST00000202241]
[ENSMUST00000201491]
[ENSMUST00000201353]
[ENSMUST00000200864]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043161
AA Change: N923Y
PolyPhen 2
Score 0.080 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: N923Y
| 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 |
probably benign
Transcript: ENSMUST00000088010
AA Change: N880Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: N880Y
| 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: ENSMUST00000136581
|
| 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 |
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: ENSMUST00000202639
AA Change: N923Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: N923Y
| 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: ENSMUST00000201423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202614
|
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,960,126 (GRCm39) |
D31V |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,211,368 (GRCm39) |
Y1560F |
probably benign |
Het |
| Actl7a |
A |
G |
4: 56,743,980 (GRCm39) |
E169G |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,598,895 (GRCm39) |
V270A |
probably benign |
Het |
| Adgre4 |
G |
A |
17: 56,104,740 (GRCm39) |
V269I |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,781,427 (GRCm39) |
T2160A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,095,512 (GRCm39) |
V4505A |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,909,398 (GRCm39) |
|
probably benign |
Het |
| Casp16 |
A |
G |
17: 23,771,027 (GRCm39) |
V126A |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,695,136 (GRCm39) |
T157K |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,151,503 (GRCm39) |
S2459P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,807,812 (GRCm39) |
E72K |
probably benign |
Het |
| Cldn23 |
T |
C |
8: 36,292,816 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cry1 |
C |
T |
10: 84,982,338 (GRCm39) |
G336D |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,956 (GRCm39) |
F30I |
probably benign |
Het |
| Dgcr8 |
T |
A |
16: 18,096,200 (GRCm39) |
D496V |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,344,614 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,820,801 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,282 (GRCm39) |
E880G |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,456,136 (GRCm39) |
V1264A |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,167 (GRCm39) |
Y270H |
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,117,112 (GRCm39) |
D385G |
probably damaging |
Het |
| Ercc2 |
A |
G |
7: 19,124,346 (GRCm39) |
Y215C |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,576 (GRCm39) |
N400S |
possibly damaging |
Het |
| Fuca1 |
C |
T |
4: 135,666,512 (GRCm39) |
T449I |
probably benign |
Het |
| Gm43638 |
T |
C |
5: 87,613,290 (GRCm39) |
K492E |
probably damaging |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
C |
14: 43,090,158 (GRCm39) |
T111A |
unknown |
Het |
| Il17a |
T |
A |
1: 20,803,864 (GRCm39) |
D86E |
probably benign |
Het |
| Itgb2l |
G |
T |
16: 96,231,775 (GRCm39) |
N330K |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,489 (GRCm39) |
H278R |
probably benign |
Het |
| Khdrbs2 |
T |
A |
1: 32,658,257 (GRCm39) |
Y272* |
probably null |
Het |
| Kndc1 |
A |
T |
7: 139,509,959 (GRCm39) |
Q1267L |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,374,120 (GRCm39) |
F64I |
possibly damaging |
Het |
| Lrig2 |
T |
A |
3: 104,398,861 (GRCm39) |
K222N |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,612,332 (GRCm39) |
Y378N |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,434 (GRCm39) |
L270P |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,609 (GRCm39) |
I511N |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,428,033 (GRCm39) |
E763D |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,493,858 (GRCm39) |
F151I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or5b97 |
T |
A |
19: 12,879,112 (GRCm39) |
T11S |
probably benign |
Het |
| Or7g27 |
G |
A |
9: 19,250,598 (GRCm39) |
V281I |
possibly damaging |
Het |
| Plxna4 |
T |
A |
6: 32,214,613 (GRCm39) |
I623F |
possibly damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,008,882 (GRCm39) |
Y127* |
probably null |
Het |
| Psg18 |
A |
G |
7: 18,087,322 (GRCm39) |
V112A |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,299,918 (GRCm39) |
N108K |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,806,865 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,302,946 (GRCm39) |
F93S |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,884 (GRCm39) |
C156S |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,189,946 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,112 (GRCm39) |
K481E |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,374,560 (GRCm39) |
W940R |
possibly damaging |
Het |
| Spopfm1 |
T |
A |
3: 94,173,791 (GRCm39) |
D262E |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,626,633 (GRCm39) |
P1106S |
probably benign |
Het |
| Tcf20 |
G |
A |
15: 82,740,209 (GRCm39) |
P414L |
probably damaging |
Het |
| Treml2 |
T |
C |
17: 48,609,838 (GRCm39) |
V90A |
probably benign |
Het |
| Uckl1 |
C |
T |
2: 181,211,327 (GRCm39) |
V501M |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,108,256 (GRCm39) |
T1937I |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,903 (GRCm39) |
I9F |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,237 (GRCm39) |
H119R |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,643 (GRCm39) |
D607G |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,641,258 (GRCm39) |
G2288D |
probably damaging |
Het |
| Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation