Incidental Mutation 'R4499:Slc9a8'
| ID |
331737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a8
|
| Ensembl Gene |
ENSMUSG00000039463 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 8 |
| Synonyms |
1200006P13Rik, 6430709P13Rik, NHE8 |
| MMRRC Submission |
041752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
167263632-167318920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 167266113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 30
(L30Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047815]
[ENSMUST00000073873]
[ENSMUST00000109218]
|
| AlphaFold |
Q8R4D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047815
AA Change: L30Q
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: L30Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
57 |
468 |
3.3e-69 |
PFAM |
|
low complexity region
|
497 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073873
AA Change: L30Q
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: L30Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
54 |
441 |
3.5e-62 |
PFAM |
|
low complexity region
|
470 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109218
AA Change: L30Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: L30Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
54 |
437 |
3.7e-61 |
PFAM |
|
low complexity region
|
466 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149607
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (47/51) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the Na+/H+ exchanger (NHE) family of integral membrane transporter proteins. The encoded protein is expressed on the apical membrane of the intestinal epithelial cells and plays an important role in mucosal protection. Loss of the encoded protein in mice results in a decrease in the number of goblet and mucin-positive cells, disorganization of the mucin layer, and a decrease in mucosal pH in the colon. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility, impaired mucin synthesis and bicarbonate secretion in the colon, abnormal blood coagulation and increased length of the small intestine, cecum and ileum crypts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,646 (GRCm39) |
W948R |
possibly damaging |
Het |
| Ache |
A |
C |
5: 137,290,194 (GRCm39) |
M508L |
probably damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,886,454 (GRCm39) |
E198V |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,216,422 (GRCm39) |
N535S |
possibly damaging |
Het |
| Agbl3 |
T |
C |
6: 34,834,533 (GRCm39) |
S906P |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,278 (GRCm39) |
T282A |
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,727,734 (GRCm39) |
V1561M |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,484,091 (GRCm39) |
D1388G |
possibly damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,387,129 (GRCm39) |
V166A |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
| Bpifb5 |
A |
T |
2: 154,082,678 (GRCm39) |
I484F |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,565,512 (GRCm39) |
E788G |
probably damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,376,826 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Cdc42bpg |
C |
T |
19: 6,370,585 (GRCm39) |
P1226L |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,589 (GRCm39) |
N315S |
possibly damaging |
Het |
| Dcaf4 |
T |
A |
12: 83,586,134 (GRCm39) |
L367Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,680,388 (GRCm39) |
V616D |
probably benign |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dgkq |
C |
G |
5: 108,797,527 (GRCm39) |
E788D |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Gm8221 |
T |
A |
15: 77,510,245 (GRCm39) |
|
noncoding transcript |
Het |
| Ice1 |
T |
C |
13: 70,757,146 (GRCm39) |
S280G |
possibly damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,713 (GRCm39) |
Q155L |
probably benign |
Het |
| Mesd |
G |
A |
7: 83,547,185 (GRCm39) |
R216Q |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,287,697 (GRCm39) |
N112K |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,781,778 (GRCm39) |
E307G |
probably benign |
Het |
| Nod1 |
T |
A |
6: 54,920,981 (GRCm39) |
N446Y |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,339,913 (GRCm39) |
T787I |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Psg25 |
C |
T |
7: 18,258,816 (GRCm39) |
E287K |
possibly damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,615 (GRCm39) |
S56G |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,064,056 (GRCm39) |
N427S |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,250,355 (GRCm39) |
I341L |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,283,893 (GRCm39) |
L49* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,530,722 (GRCm39) |
D2326E |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,950,431 (GRCm39) |
I688T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,746,822 (GRCm39) |
E4742D |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,145,689 (GRCm39) |
I117V |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,782 (GRCm39) |
M2008L |
probably benign |
Het |
| Zfp1005 |
T |
G |
2: 150,111,362 (GRCm39) |
V684G |
possibly damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,497 (GRCm39) |
E510G |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,764,365 (GRCm39) |
S578R |
probably benign |
Het |
|
| Other mutations in Slc9a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01616:Slc9a8
|
APN |
2 |
167,266,086 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02626:Slc9a8
|
APN |
2 |
167,309,597 (GRCm39) |
splice site |
probably benign |
|
|
costello
|
UTSW |
2 |
167,293,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Slc9a8
|
UTSW |
2 |
167,293,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Slc9a8
|
UTSW |
2 |
167,299,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0504:Slc9a8
|
UTSW |
2 |
167,266,125 (GRCm39) |
missense |
probably benign |
|
|
R0906:Slc9a8
|
UTSW |
2 |
167,276,787 (GRCm39) |
intron |
probably benign |
|
|
R1216:Slc9a8
|
UTSW |
2 |
167,266,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1225:Slc9a8
|
UTSW |
2 |
167,313,443 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1604:Slc9a8
|
UTSW |
2 |
167,313,352 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1728:Slc9a8
|
UTSW |
2 |
167,266,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Slc9a8
|
UTSW |
2 |
167,266,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1773:Slc9a8
|
UTSW |
2 |
167,313,385 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1775:Slc9a8
|
UTSW |
2 |
167,299,278 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1918:Slc9a8
|
UTSW |
2 |
167,266,134 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2312:Slc9a8
|
UTSW |
2 |
167,293,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3031:Slc9a8
|
UTSW |
2 |
167,293,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:Slc9a8
|
UTSW |
2 |
167,299,272 (GRCm39) |
missense |
probably benign |
|
|
R3757:Slc9a8
|
UTSW |
2 |
167,266,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4746:Slc9a8
|
UTSW |
2 |
167,283,090 (GRCm39) |
nonsense |
probably null |
|
|
R4904:Slc9a8
|
UTSW |
2 |
167,313,316 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4969:Slc9a8
|
UTSW |
2 |
167,288,449 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5395:Slc9a8
|
UTSW |
2 |
167,309,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5811:Slc9a8
|
UTSW |
2 |
167,313,307 (GRCm39) |
nonsense |
probably null |
|
|
R5908:Slc9a8
|
UTSW |
2 |
167,293,090 (GRCm39) |
intron |
probably benign |
|
|
R6311:Slc9a8
|
UTSW |
2 |
167,293,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6443:Slc9a8
|
UTSW |
2 |
167,276,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6494:Slc9a8
|
UTSW |
2 |
167,266,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Slc9a8
|
UTSW |
2 |
167,307,303 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7322:Slc9a8
|
UTSW |
2 |
167,293,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Slc9a8
|
UTSW |
2 |
167,316,051 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7896:Slc9a8
|
UTSW |
2 |
167,307,278 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8095:Slc9a8
|
UTSW |
2 |
167,310,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8725:Slc9a8
|
UTSW |
2 |
167,315,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATAATAGAAGTCTCTGGTGTGC -3'
(R):5'- TCAAAAGCTAAGACATTGCTCTCTG -3'
Sequencing Primer
(F):5'- TTCAAGGCCTGTCTGCTG -3'
(R):5'- GCTAAGACATTGCTCTCTGGAACTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation