Incidental Mutation 'R7825:Gtf3c2'
| ID |
602123 |
| 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 |
045879-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
R7825 (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 31315715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 790
(H790R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000200833]
[ENSMUST00000200864]
[ENSMUST00000201353]
[ENSMUST00000202639]
[ENSMUST00000201491]
[ENSMUST00000202241]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088010
AA Change: H790R
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: H790R
| 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 damaging
Transcript: ENSMUST00000101411
AA Change: H790R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: H790R
| 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: 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 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 damaging
Transcript: ENSMUST00000202639
AA Change: H833R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: H833R
| 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: 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: 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
C |
T |
4: 137,182,654 (GRCm39) |
R270C |
probably damaging |
Het |
| Adprs |
C |
A |
4: 126,215,489 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,598,106 (GRCm39) |
H89R |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,493,485 (GRCm39) |
N540D |
probably benign |
Het |
| Cd38 |
A |
T |
5: 44,058,797 (GRCm39) |
H137L |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,473,123 (GRCm39) |
V3A |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,234,136 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,882 (GRCm39) |
D95V |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,260,128 (GRCm39) |
L572P |
possibly damaging |
Het |
| Eif3e |
A |
C |
15: 43,129,667 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
C |
5: 137,370,699 (GRCm39) |
S911P |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,181,728 (GRCm39) |
T157A |
not run |
Het |
| Gnmt |
T |
C |
17: 47,040,019 (GRCm39) |
D20G |
probably damaging |
Het |
| Gpatch8 |
A |
C |
11: 102,372,268 (GRCm39) |
D423E |
unknown |
Het |
| Hepacam |
T |
C |
9: 37,296,064 (GRCm39) |
I405T |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,286,160 (GRCm39) |
V3574E |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,802,616 (GRCm39) |
F73V |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,947,892 (GRCm39) |
S319T |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,460 (GRCm39) |
D86V |
unknown |
Het |
| Krt76 |
T |
A |
15: 101,795,938 (GRCm39) |
T411S |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,194,538 (GRCm39) |
D1583V |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,377,782 (GRCm39) |
V1689D |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,114,141 (GRCm39) |
T611A |
possibly damaging |
Het |
| Nipbl |
T |
A |
15: 8,320,971 (GRCm39) |
Y2712F |
probably damaging |
Het |
| Ntng2 |
T |
A |
2: 29,094,090 (GRCm39) |
H427L |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,820,374 (GRCm39) |
L641Q |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,299,340 (GRCm39) |
K623R |
probably benign |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prcc |
T |
A |
3: 87,777,052 (GRCm39) |
E307D |
possibly damaging |
Het |
| Prss27 |
T |
C |
17: 24,261,932 (GRCm39) |
F80S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,950,836 (GRCm39) |
Q295R |
probably benign |
Het |
| Sgk2 |
G |
T |
2: 162,848,801 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,573,396 (GRCm39) |
V603I |
possibly damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,190,467 (GRCm39) |
H574R |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,881 (GRCm39) |
V429A |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,081,344 (GRCm39) |
|
probably null |
Het |
| Tesk1 |
A |
C |
4: 43,447,143 (GRCm39) |
R510S |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,658,470 (GRCm39) |
E499G |
probably benign |
Het |
| Thra |
G |
A |
11: 98,653,774 (GRCm39) |
V202I |
probably benign |
Het |
| Tiam1 |
A |
T |
16: 89,694,977 (GRCm39) |
M160K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,782,009 (GRCm39) |
I570V |
possibly damaging |
Het |
| Treml1 |
C |
A |
17: 48,673,784 (GRCm39) |
P270Q |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,575 (GRCm39) |
N78S |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
AAGTA |
AAGTAGAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Ube3b |
T |
A |
5: 114,539,373 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,218 (GRCm39) |
C156* |
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,443 (GRCm39) |
C76S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,443,197 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,051,769 (GRCm39) |
E668G |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,301 (GRCm39) |
T429A |
probably benign |
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 |
|
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'- TCTCCTTCCTGCATGCGAAG -3'
(R):5'- TGCTACAGTAAGCCAGTTTCC -3'
Sequencing Primer
(F):5'- CGAAGCATTGGTTCTCTACGAAG -3'
(R):5'- CTGCTAAGCCTATATGAGCTGAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation