Incidental Mutation 'R2415:Surf6'
| ID |
248955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Surf6
|
| Ensembl Gene |
ENSMUSG00000036160 |
| Gene Name |
surfeit gene 6 |
| Synonyms |
Surf-6, D2Wsu129e |
| MMRRC Submission |
040379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R2415 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26780430-26792899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26782274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 351
(R351H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047632]
[ENSMUST00000114043]
|
| AlphaFold |
P70279 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047632
AA Change: R351H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048457
Gene: ENSMUSG00000036160
AA Change: R351H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
Pfam:SURF6
|
135 |
342 |
1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114043
|
| SMART Domains |
Protein: ENSMUSP00000109677
Gene: ENSMUSG00000036160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
Pfam:SURF6
|
132 |
207 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142131
|
| Meta Mutation Damage Score |
0.0858 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano6 |
A |
T |
15: 95,860,161 (GRCm39) |
N761I |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,077 (GRCm39) |
S55P |
probably damaging |
Het |
| Cul9 |
T |
A |
17: 46,854,364 (GRCm39) |
T113S |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,211,727 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,186 (GRCm39) |
V467A |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,770,124 (GRCm39) |
F62I |
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,347,175 (GRCm39) |
M567K |
probably damaging |
Het |
| Fbxw21 |
G |
T |
9: 108,985,469 (GRCm39) |
A103E |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,929,932 (GRCm38) |
S2021T |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,641,256 (GRCm39) |
|
probably null |
Het |
| Grid1 |
A |
T |
14: 35,172,326 (GRCm39) |
I611F |
possibly damaging |
Het |
| Hdac1 |
A |
C |
4: 129,416,754 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,191,880 (GRCm39) |
E427G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,400,906 (GRCm39) |
T685S |
probably benign |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Ky |
G |
T |
9: 102,419,090 (GRCm39) |
G366W |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,131,977 (GRCm39) |
S147P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,305,411 (GRCm39) |
K405E |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,770,390 (GRCm39) |
F67V |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,047 (GRCm39) |
D316G |
probably damaging |
Het |
| Nudt12 |
A |
G |
17: 59,313,603 (GRCm39) |
V325A |
probably damaging |
Het |
| Pdia4 |
G |
T |
6: 47,783,490 (GRCm39) |
D184E |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,097,147 (GRCm39) |
F793V |
possibly damaging |
Het |
| Pla1a |
T |
A |
16: 38,228,112 (GRCm39) |
Y255F |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,570,626 (GRCm39) |
S269P |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,614 (GRCm39) |
V118D |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,789,729 (GRCm39) |
I764N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Tspan15 |
A |
G |
10: 62,037,570 (GRCm39) |
I115T |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,431 (GRCm39) |
Y179C |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,403,305 (GRCm39) |
D481G |
probably benign |
Het |
|
| Other mutations in Surf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Surf6
|
APN |
2 |
26,783,081 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01791:Surf6
|
APN |
2 |
26,789,759 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02876:Surf6
|
APN |
2 |
26,782,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dividend
|
UTSW |
2 |
26,789,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rational
|
UTSW |
2 |
26,782,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Surf6
|
UTSW |
2 |
26,782,721 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6594:Surf6
|
UTSW |
2 |
26,792,761 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7044:Surf6
|
UTSW |
2 |
26,789,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Surf6
|
UTSW |
2 |
26,782,380 (GRCm39) |
nonsense |
probably null |
|
|
R9008:Surf6
|
UTSW |
2 |
26,782,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Surf6
|
UTSW |
2 |
26,783,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9367:Surf6
|
UTSW |
2 |
26,782,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACACAGTCAGAGATCTC -3'
(R):5'- TTGCTGTACAAGGCTGAGGG -3'
Sequencing Primer
(F):5'- CACAGTCAGAGATCTCACTATGGTTG -3'
(R):5'- ATGACGAACGCCTGCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation