Incidental Mutation 'R0591:Slc9b1'
| ID |
55964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9b1
|
| Ensembl Gene |
ENSMUSG00000050150 |
| Gene Name |
solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 |
| Synonyms |
1700094G20Rik, 4933425K02Rik, 4933424B12Rik, Nhedc1 |
| MMRRC Submission |
038781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135053790-135103588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135088593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 318
(N318S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078568]
[ENSMUST00000161417]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078568
AA Change: N318S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: N318S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
148 |
542 |
4.7e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160460
|
| SMART Domains |
Protein: ENSMUSP00000124902
Gene: ENSMUSG00000050150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
149 |
363 |
1.8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161417
AA Change: N28S
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125203
Gene: ENSMUSG00000050150
AA Change: N28S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_H_Exchanger
|
2 |
75 |
1.1e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1492 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.7%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| 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 a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,774,704 (GRCm39) |
E1298* |
probably null |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,659,550 (GRCm39) |
Y334* |
probably null |
Het |
| Adam19 |
T |
C |
11: 46,012,238 (GRCm39) |
|
probably benign |
Het |
| Agt |
A |
T |
8: 125,283,678 (GRCm39) |
S480R |
possibly damaging |
Het |
| Anapc1 |
G |
T |
2: 128,461,252 (GRCm39) |
D1769E |
probably benign |
Het |
| Aox4 |
T |
C |
1: 58,278,261 (GRCm39) |
|
probably benign |
Het |
| Apol9b |
G |
A |
15: 77,619,830 (GRCm39) |
V209I |
possibly damaging |
Het |
| Appl2 |
A |
T |
10: 83,460,509 (GRCm39) |
I116K |
possibly damaging |
Het |
| BC051665 |
A |
G |
13: 60,932,422 (GRCm39) |
|
probably benign |
Het |
| Cactin |
G |
T |
10: 81,159,837 (GRCm39) |
E89* |
probably null |
Het |
| Carf |
G |
T |
1: 60,165,073 (GRCm39) |
|
probably benign |
Het |
| Ccdc167 |
A |
G |
17: 29,924,235 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,885,808 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,621,353 (GRCm39) |
K574* |
probably null |
Het |
| Crabp1 |
T |
A |
9: 54,672,887 (GRCm39) |
I64N |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,825,777 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,518,936 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
A |
T |
14: 104,060,710 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,279,973 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
A |
C |
5: 110,336,609 (GRCm39) |
Q416P |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,445 (GRCm39) |
V159A |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,956,884 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,873,909 (GRCm39) |
I2195T |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,569,295 (GRCm39) |
N76K |
possibly damaging |
Het |
| Hsd11b1 |
T |
C |
1: 192,911,984 (GRCm39) |
|
probably benign |
Het |
| Iftap |
A |
T |
2: 101,406,462 (GRCm39) |
D155E |
probably benign |
Het |
| Inhba |
A |
T |
13: 16,201,405 (GRCm39) |
K322N |
probably damaging |
Het |
| Katnal1 |
A |
T |
5: 148,829,326 (GRCm39) |
F291L |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,150,665 (GRCm39) |
E316G |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,823,935 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
G |
8: 13,068,751 (GRCm39) |
S1075A |
probably benign |
Het |
| Mios |
T |
C |
6: 8,215,470 (GRCm39) |
V222A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,433,827 (GRCm39) |
|
probably benign |
Het |
| Nars1 |
A |
T |
18: 64,633,638 (GRCm39) |
I544N |
probably damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,245,034 (GRCm39) |
L63P |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,768,387 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,796,932 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,138 (GRCm39) |
D213G |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,136,634 (GRCm39) |
N538D |
possibly damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,120,714 (GRCm39) |
|
probably benign |
Het |
| Rap1b |
G |
A |
10: 117,654,522 (GRCm39) |
|
probably benign |
Het |
| Rhcg |
T |
A |
7: 79,244,520 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,804,220 (GRCm39) |
T550I |
possibly damaging |
Het |
| Samm50 |
G |
A |
15: 84,095,369 (GRCm39) |
G452R |
probably benign |
Het |
| Scin |
A |
G |
12: 40,130,929 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,854 (GRCm39) |
L81S |
probably damaging |
Het |
| Skint6 |
A |
C |
4: 112,715,366 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,527,160 (GRCm39) |
L411H |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,939,782 (GRCm39) |
|
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,525,665 (GRCm39) |
A255V |
probably damaging |
Het |
| Tcp11l2 |
A |
T |
10: 84,440,458 (GRCm39) |
H287L |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,849,962 (GRCm39) |
Y605N |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,227,037 (GRCm39) |
N1490K |
probably benign |
Het |
| Ube4b |
T |
G |
4: 149,442,034 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,225,228 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,500 (GRCm39) |
D82V |
probably damaging |
Het |
|
| Other mutations in Slc9b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01979:Slc9b1
|
APN |
3 |
135,077,743 (GRCm39) |
splice site |
probably null |
|
|
IGL02793:Slc9b1
|
APN |
3 |
135,080,167 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02875:Slc9b1
|
APN |
3 |
135,080,167 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02977:Slc9b1
|
APN |
3 |
135,103,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Slc9b1
|
APN |
3 |
135,100,744 (GRCm39) |
splice site |
probably null |
|
|
IGL03112:Slc9b1
|
APN |
3 |
135,103,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03277:Slc9b1
|
APN |
3 |
135,096,269 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03409:Slc9b1
|
APN |
3 |
135,100,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0190:Slc9b1
|
UTSW |
3 |
135,063,434 (GRCm39) |
missense |
unknown |
|
|
R0329:Slc9b1
|
UTSW |
3 |
135,078,996 (GRCm39) |
nonsense |
probably null |
|
|
R0592:Slc9b1
|
UTSW |
3 |
135,099,835 (GRCm39) |
splice site |
probably benign |
|
|
R0602:Slc9b1
|
UTSW |
3 |
135,103,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0893:Slc9b1
|
UTSW |
3 |
135,100,651 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1250:Slc9b1
|
UTSW |
3 |
135,054,531 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1619:Slc9b1
|
UTSW |
3 |
135,060,765 (GRCm39) |
splice site |
probably null |
|
|
R1840:Slc9b1
|
UTSW |
3 |
135,063,229 (GRCm39) |
missense |
unknown |
|
|
R3157:Slc9b1
|
UTSW |
3 |
135,077,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Slc9b1
|
UTSW |
3 |
135,077,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Slc9b1
|
UTSW |
3 |
135,088,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Slc9b1
|
UTSW |
3 |
135,063,534 (GRCm39) |
intron |
probably benign |
|
|
R5154:Slc9b1
|
UTSW |
3 |
135,078,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Slc9b1
|
UTSW |
3 |
135,079,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5677:Slc9b1
|
UTSW |
3 |
135,063,320 (GRCm39) |
missense |
unknown |
|
|
R5903:Slc9b1
|
UTSW |
3 |
135,098,655 (GRCm39) |
intron |
probably benign |
|
|
R5933:Slc9b1
|
UTSW |
3 |
135,099,756 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6593:Slc9b1
|
UTSW |
3 |
135,063,219 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6667:Slc9b1
|
UTSW |
3 |
135,077,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6788:Slc9b1
|
UTSW |
3 |
135,063,518 (GRCm39) |
splice site |
probably null |
|
|
R7974:Slc9b1
|
UTSW |
3 |
135,099,791 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8210:Slc9b1
|
UTSW |
3 |
135,097,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Slc9b1
|
UTSW |
3 |
135,077,658 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8988:Slc9b1
|
UTSW |
3 |
135,078,900 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9102:Slc9b1
|
UTSW |
3 |
135,100,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Slc9b1
|
UTSW |
3 |
135,054,468 (GRCm39) |
intron |
probably benign |
|
|
RF006:Slc9b1
|
UTSW |
3 |
135,063,303 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTAGACAGACAGATGGGTTCTC -3'
(R):5'- ACACTACCAAAAGGGCACACTGTTG -3'
Sequencing Primer
(F):5'- CAGACAGATGGGTTCTCAAAGTC -3'
(R):5'- GAATTGTCTTAACACCAAGGAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation