Incidental Mutation 'IGL03131:Gtf3c2'
| ID |
410347 |
| 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 # |
IGL03131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31314964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 885
(F885I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000200833]
[ENSMUST00000200864]
[ENSMUST00000202639]
[ENSMUST00000201491]
[ENSMUST00000201353]
[ENSMUST00000202241]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088010
AA Change: F885I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: F885I
| 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: 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 damaging
Transcript: ENSMUST00000202639
AA Change: F928I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: F928I
| 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: 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
C |
3: 121,473,251 (GRCm39) |
R135S |
unknown |
Het |
| A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
| Abca12 |
A |
T |
1: 71,385,861 (GRCm39) |
F252L |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,575,640 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
C |
A |
9: 119,260,350 (GRCm39) |
F364L |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,345,650 (GRCm39) |
C1564R |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,682,130 (GRCm39) |
T392A |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,157,322 (GRCm39) |
F767L |
possibly damaging |
Het |
| Atg10 |
C |
A |
13: 91,085,412 (GRCm39) |
R179I |
probably null |
Het |
| Bsph1 |
A |
T |
7: 13,207,012 (GRCm39) |
K129N |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,782,765 (GRCm39) |
D77G |
probably benign |
Het |
| Cc2d1a |
T |
A |
8: 84,870,056 (GRCm39) |
K153M |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,475,979 (GRCm39) |
V672I |
probably benign |
Het |
| Crnkl1 |
T |
C |
2: 145,774,178 (GRCm39) |
K95R |
probably benign |
Het |
| Crtap |
T |
C |
9: 114,209,072 (GRCm39) |
D324G |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,138,231 (GRCm39) |
G1607E |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,272,051 (GRCm39) |
I369R |
probably benign |
Het |
| Dmc1 |
T |
A |
15: 79,452,892 (GRCm39) |
I246L |
probably benign |
Het |
| Dock1 |
G |
T |
7: 134,475,912 (GRCm39) |
V896L |
possibly damaging |
Het |
| Eftud2 |
G |
A |
11: 102,761,009 (GRCm39) |
T112M |
probably damaging |
Het |
| F5 |
A |
T |
1: 163,989,388 (GRCm39) |
I97F |
possibly damaging |
Het |
| Fasn |
C |
T |
11: 120,701,550 (GRCm39) |
V1939M |
possibly damaging |
Het |
| Gpatch2l |
T |
C |
12: 86,328,285 (GRCm39) |
V414A |
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,228,855 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
G |
9: 4,432,876 (GRCm39) |
N769T |
probably damaging |
Het |
| Ifi209 |
C |
T |
1: 173,468,800 (GRCm39) |
T210I |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,359 (GRCm39) |
V1917A |
probably benign |
Het |
| Mad1l1 |
G |
A |
5: 140,293,458 (GRCm39) |
A120V |
probably benign |
Het |
| Mef2c |
T |
C |
13: 83,810,494 (GRCm39) |
I382T |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,285,056 (GRCm39) |
L171I |
probably benign |
Het |
| Myf6 |
T |
A |
10: 107,330,132 (GRCm39) |
Q145L |
probably damaging |
Het |
| Myh3 |
G |
A |
11: 66,981,935 (GRCm39) |
|
probably benign |
Het |
| Nbas |
A |
G |
12: 13,329,417 (GRCm39) |
I121V |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,247,398 (GRCm39) |
S342T |
probably damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,052,741 (GRCm39) |
D896N |
possibly damaging |
Het |
| Prss41 |
A |
G |
17: 24,061,498 (GRCm39) |
Y98H |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,665,425 (GRCm39) |
T450S |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,861 (GRCm39) |
R135C |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,481,097 (GRCm39) |
V570A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,526,668 (GRCm39) |
R949Q |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,887,689 (GRCm39) |
K98* |
probably null |
Het |
| Serbp1 |
T |
A |
6: 67,258,807 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
G |
T |
1: 107,199,457 (GRCm39) |
Q355K |
probably benign |
Het |
| Slc34a3 |
T |
G |
2: 25,121,246 (GRCm39) |
D307A |
probably benign |
Het |
| Smarcad1 |
T |
A |
6: 65,051,937 (GRCm39) |
S357T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,918,075 (GRCm39) |
D353N |
possibly damaging |
Het |
| Spdl1 |
T |
A |
11: 34,721,592 (GRCm39) |
Q39L |
possibly damaging |
Het |
| Syne2 |
A |
C |
12: 76,104,264 (GRCm39) |
Q5485P |
probably damaging |
Het |
| Synj1 |
C |
A |
16: 90,785,056 (GRCm39) |
V227F |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,506,882 (GRCm39) |
T88A |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,183,136 (GRCm39) |
Q532* |
probably null |
Het |
| Tlr12 |
A |
G |
4: 128,509,670 (GRCm39) |
F860S |
probably damaging |
Het |
| Trdn |
C |
A |
10: 33,274,410 (GRCm39) |
S461* |
probably null |
Het |
| Trip4 |
G |
A |
9: 65,764,727 (GRCm39) |
P413S |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
Het |
| Wnt9a |
T |
C |
11: 59,221,855 (GRCm39) |
L251P |
probably damaging |
Het |
| Xrcc1 |
A |
T |
7: 24,272,719 (GRCm39) |
K618* |
probably null |
Het |
| Zfp759 |
T |
C |
13: 67,286,728 (GRCm39) |
L93P |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation