Incidental Mutation 'R1311:Supt7l'
| ID |
157929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt7l
|
| Ensembl Gene |
ENSMUSG00000053134 |
| Gene Name |
SPT7-like, STAGA complex gamma subunit |
| Synonyms |
6030455L14Rik, 2610524B01Rik |
| MMRRC Submission |
039377-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31671913-31684106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31677605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 187
(Y187C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065388]
[ENSMUST00000200721]
[ENSMUST00000201769]
[ENSMUST00000202421]
|
| AlphaFold |
Q9CZV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065388
AA Change: Y187C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134
AA Change: Y187C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
BTP
|
149 |
228 |
5.13e-25 |
SMART |
|
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200721
AA Change: Y138C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134
AA Change: Y138C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
68 |
N/A |
INTRINSIC |
|
BTP
|
100 |
179 |
5.13e-25 |
SMART |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201769
AA Change: Y187C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134
AA Change: Y187C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
BTP
|
149 |
228 |
5.13e-25 |
SMART |
|
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202421
AA Change: Y187C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143795
Gene: ENSMUSG00000053134
AA Change: Y187C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
BTP
|
149 |
228 |
5.13e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202932
|
| Meta Mutation Damage Score |
0.5298 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
| Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
| Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
| Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
| Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
| Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
| Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
| Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
| Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
| Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
| Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
probably damaging |
Het |
|
| Other mutations in Supt7l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Supt7l
|
APN |
5 |
31,675,779 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01727:Supt7l
|
APN |
5 |
31,677,686 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02111:Supt7l
|
APN |
5 |
31,673,022 (GRCm39) |
splice site |
probably null |
|
|
R0265:Supt7l
|
UTSW |
5 |
31,673,262 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0462:Supt7l
|
UTSW |
5 |
31,677,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4790:Supt7l
|
UTSW |
5 |
31,680,248 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6029:Supt7l
|
UTSW |
5 |
31,684,331 (GRCm39) |
splice site |
probably null |
|
|
R6891:Supt7l
|
UTSW |
5 |
31,680,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8243:Supt7l
|
UTSW |
5 |
31,673,013 (GRCm39) |
missense |
probably benign |
|
|
R9661:Supt7l
|
UTSW |
5 |
31,680,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Supt7l
|
UTSW |
5 |
31,680,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTTGTAGACTCTGCCCAGCC -3'
(R):5'- TTGTCTCCTCTCTCAGCGGGAAAG -3'
Sequencing Primer
(F):5'- CCTCACCTGTAGCATGTAAGTG -3'
(R):5'- GGAGAGCCTGTGACAGAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation