Incidental Mutation 'R5320:Gtf3c3'
| ID |
406024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c3
|
| Ensembl Gene |
ENSMUSG00000041303 |
| Gene Name |
general transcription factor IIIC, polypeptide 3 |
| Synonyms |
|
| MMRRC Submission |
042903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5320 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54435163-54478130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54445032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 674
(L674Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041638]
|
| AlphaFold |
Q3TMP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041638
AA Change: L674Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039420
Gene: ENSMUSG00000041303
AA Change: L674Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
108 |
N/A |
INTRINSIC |
|
TPR
|
145 |
178 |
9.24e1 |
SMART |
|
TPR
|
179 |
212 |
2.36e1 |
SMART |
|
TPR
|
213 |
246 |
4.58e-4 |
SMART |
|
TPR
|
247 |
280 |
6.4e1 |
SMART |
|
Blast:TPR
|
286 |
319 |
6e-9 |
BLAST |
|
low complexity region
|
353 |
365 |
N/A |
INTRINSIC |
|
TPR
|
452 |
485 |
1.87e1 |
SMART |
|
low complexity region
|
549 |
560 |
N/A |
INTRINSIC |
|
TPR
|
807 |
840 |
3.27e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,526,541 (GRCm39) |
I581N |
probably damaging |
Het |
| Abcb10 |
A |
G |
8: 124,697,763 (GRCm39) |
F187S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,808,203 (GRCm39) |
V842E |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,307,291 (GRCm39) |
D1367G |
probably benign |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,474 (GRCm39) |
L133Q |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,509 (GRCm39) |
F172L |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bmpr1a |
C |
T |
14: 34,146,999 (GRCm39) |
V258M |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,972,193 (GRCm39) |
K892* |
probably null |
Het |
| Cap2 |
A |
G |
13: 46,801,840 (GRCm39) |
*422W |
probably null |
Het |
| Cars2 |
G |
T |
8: 11,567,854 (GRCm39) |
H414N |
probably benign |
Het |
| Ccnt1 |
A |
C |
15: 98,442,124 (GRCm39) |
S381R |
probably benign |
Het |
| Cdyl2 |
A |
T |
8: 117,321,794 (GRCm39) |
C244* |
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,305 (GRCm39) |
E115G |
probably null |
Het |
| Cpt1b |
G |
A |
15: 89,303,477 (GRCm39) |
P553S |
probably benign |
Het |
| Cuedc1 |
A |
G |
11: 88,068,136 (GRCm39) |
E128G |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,156,968 (GRCm39) |
V80D |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,536,874 (GRCm39) |
L113P |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,810 (GRCm39) |
I312T |
probably damaging |
Het |
| Gnrhr |
T |
G |
5: 86,345,473 (GRCm39) |
K71T |
possibly damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,212 (GRCm39) |
H352Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,313,115 (GRCm39) |
V1785A |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,153,810 (GRCm39) |
I687N |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,936,955 (GRCm39) |
D81V |
probably damaging |
Het |
| Lama3 |
A |
C |
18: 12,685,912 (GRCm39) |
D1142A |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,766,727 (GRCm39) |
I713T |
possibly damaging |
Het |
| Man2b2 |
T |
A |
5: 36,967,677 (GRCm39) |
Y897F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,738 (GRCm39) |
I1895F |
unknown |
Het |
| Myh8 |
G |
A |
11: 67,177,089 (GRCm39) |
V414I |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,149 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
T |
7: 49,141,121 (GRCm39) |
M889L |
probably benign |
Het |
| Oc90 |
C |
T |
15: 65,754,457 (GRCm39) |
G236D |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,548 (GRCm39) |
V118A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,267,631 (GRCm39) |
I11T |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,615,787 (GRCm39) |
I173T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,320,988 (GRCm39) |
D40E |
probably benign |
Het |
| Pdzrn3 |
G |
C |
6: 101,128,064 (GRCm39) |
H867Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,094,696 (GRCm39) |
I174F |
possibly damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,166,015 (GRCm39) |
W95* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,577,843 (GRCm39) |
T336S |
probably benign |
Het |
| Prdm11 |
A |
C |
2: 92,843,226 (GRCm39) |
S78A |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,435,224 (GRCm39) |
I405T |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,902,478 (GRCm39) |
R1208G |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,458,864 (GRCm39) |
|
probably null |
Het |
| Rb1 |
A |
T |
14: 73,450,566 (GRCm39) |
Y599* |
probably null |
Het |
| Rnf141 |
A |
T |
7: 110,433,010 (GRCm39) |
F62L |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,023,698 (GRCm39) |
F292I |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,477,175 (GRCm39) |
V736I |
probably damaging |
Het |
| Sim2 |
A |
T |
16: 93,905,598 (GRCm39) |
T141S |
probably benign |
Het |
| Slc6a15 |
G |
T |
10: 103,244,067 (GRCm39) |
V436L |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,772 (GRCm39) |
S924P |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,671,881 (GRCm39) |
E449G |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,137 (GRCm39) |
N253K |
possibly damaging |
Het |
| Tmem198 |
G |
A |
1: 75,456,500 (GRCm39) |
A82T |
probably benign |
Het |
| Tom1l2 |
A |
T |
11: 60,133,648 (GRCm39) |
L54* |
probably null |
Het |
| Trav12-2 |
A |
G |
14: 53,854,356 (GRCm39) |
Y110C |
probably benign |
Het |
| Trdn |
T |
A |
10: 33,209,247 (GRCm39) |
|
probably null |
Het |
| Trim36 |
G |
T |
18: 46,300,565 (GRCm39) |
P690Q |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,206,599 (GRCm39) |
M600L |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,355 (GRCm39) |
Q1143L |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,283,739 (GRCm39) |
D144E |
probably benign |
Het |
| Vps18 |
A |
T |
2: 119,127,858 (GRCm39) |
R894* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,369 (GRCm39) |
V248A |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
probably damaging |
Het |
|
| Other mutations in Gtf3c3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Gtf3c3
|
APN |
1 |
54,455,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00435:Gtf3c3
|
APN |
1 |
54,466,694 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01128:Gtf3c3
|
APN |
1 |
54,468,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0243:Gtf3c3
|
UTSW |
1 |
54,442,695 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0271:Gtf3c3
|
UTSW |
1 |
54,467,971 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0571:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0965:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1070:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1111:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1112:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1113:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1115:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1117:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1230:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1231:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1382:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1414:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Gtf3c3
|
UTSW |
1 |
54,477,098 (GRCm39) |
missense |
probably benign |
|
|
R1556:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Gtf3c3
|
UTSW |
1 |
54,444,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Gtf3c3
|
UTSW |
1 |
54,438,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:Gtf3c3
|
UTSW |
1 |
54,473,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Gtf3c3
|
UTSW |
1 |
54,456,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Gtf3c3
|
UTSW |
1 |
54,459,583 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1861:Gtf3c3
|
UTSW |
1 |
54,477,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1940:Gtf3c3
|
UTSW |
1 |
54,468,117 (GRCm39) |
splice site |
probably benign |
|
|
R3804:Gtf3c3
|
UTSW |
1 |
54,463,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4496:Gtf3c3
|
UTSW |
1 |
54,463,291 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4621:Gtf3c3
|
UTSW |
1 |
54,458,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Gtf3c3
|
UTSW |
1 |
54,458,657 (GRCm39) |
splice site |
probably null |
|
|
R5605:Gtf3c3
|
UTSW |
1 |
54,455,085 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5854:Gtf3c3
|
UTSW |
1 |
54,458,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6050:Gtf3c3
|
UTSW |
1 |
54,445,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6441:Gtf3c3
|
UTSW |
1 |
54,445,197 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6892:Gtf3c3
|
UTSW |
1 |
54,455,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7114:Gtf3c3
|
UTSW |
1 |
54,462,666 (GRCm39) |
missense |
probably benign |
|
|
R7299:Gtf3c3
|
UTSW |
1 |
54,456,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7441:Gtf3c3
|
UTSW |
1 |
54,459,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7586:Gtf3c3
|
UTSW |
1 |
54,442,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Gtf3c3
|
UTSW |
1 |
54,462,731 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7634:Gtf3c3
|
UTSW |
1 |
54,458,800 (GRCm39) |
splice site |
probably null |
|
|
R7739:Gtf3c3
|
UTSW |
1 |
54,444,198 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8349:Gtf3c3
|
UTSW |
1 |
54,468,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Gtf3c3
|
UTSW |
1 |
54,468,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Gtf3c3
|
UTSW |
1 |
54,468,031 (GRCm39) |
missense |
probably benign |
|
|
R8955:Gtf3c3
|
UTSW |
1 |
54,462,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9290:Gtf3c3
|
UTSW |
1 |
54,477,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9353:Gtf3c3
|
UTSW |
1 |
54,445,211 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGATTGCAGGGCTGACAC -3'
(R):5'- CGAGTGTCTTGCCGAAAGAAG -3'
Sequencing Primer
(F):5'- GGCTGACACCATTTGCAGATC -3'
(R):5'- GAAGACTGGTGGAACCTTCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation