Incidental Mutation 'R8080:Slc9a3'
| ID |
629302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a3
|
| Ensembl Gene |
ENSMUSG00000036123 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
| Synonyms |
NHE3, NHE-3, 9030624O13Rik |
| MMRRC Submission |
067513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 74314146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 818
(Q818P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035934]
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035934
|
| SMART Domains |
Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
187 |
743 |
1.7e-162 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036208
AA Change: Q818P
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: Q818P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
53 |
457 |
3.6e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221703
AA Change: Q818P
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225423
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 94.9%
|
| Validation Efficiency |
100% (64/64) |
| 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 an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,023,900 (GRCm39) |
Q277R |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,401 (GRCm39) |
N226D |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,154,565 (GRCm39) |
L316Q |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,586 (GRCm39) |
C12R |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,463,357 (GRCm39) |
E1040D |
probably benign |
Het |
| Cdca2 |
G |
A |
14: 67,915,004 (GRCm39) |
Q752* |
probably null |
Het |
| Cntn2 |
T |
C |
1: 132,449,536 (GRCm39) |
D635G |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,928 (GRCm39) |
I229F |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,650,774 (GRCm39) |
E900K |
possibly damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,690,500 (GRCm39) |
Y911C |
unknown |
Het |
| Egflam |
T |
A |
15: 7,427,561 (GRCm39) |
D2V |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,092,783 (GRCm39) |
N505K |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,933,790 (GRCm39) |
S267P |
probably damaging |
Het |
| Fancc |
G |
T |
13: 63,550,837 (GRCm39) |
T12K |
|
Het |
| Fbxo3 |
A |
G |
2: 103,864,012 (GRCm39) |
Y89C |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,385 (GRCm39) |
Y83C |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,480 (GRCm39) |
T122A |
|
Het |
| Gm3696 |
A |
T |
14: 18,435,071 (GRCm39) |
L71* |
probably null |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gmip |
A |
T |
8: 70,268,736 (GRCm39) |
T454S |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,880,055 (GRCm39) |
T554S |
probably damaging |
Het |
| Hoxc9 |
C |
T |
15: 102,890,551 (GRCm39) |
T156M |
probably benign |
Het |
| Hrc |
A |
G |
7: 44,986,262 (GRCm39) |
E471G |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,261,863 (GRCm39) |
I2655V |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,463 (GRCm39) |
H18R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,649,270 (GRCm39) |
Y47C |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,341,179 (GRCm39) |
T37A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,796,038 (GRCm39) |
G2915S |
possibly damaging |
Het |
| Kdm5d |
T |
C |
Y: 910,742 (GRCm39) |
F285L |
probably benign |
Het |
| Lmna |
A |
G |
3: 88,393,868 (GRCm39) |
F237L |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,172,607 (GRCm39) |
K1788E |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,096,658 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,102,228 (GRCm39) |
Y840N |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,866,357 (GRCm39) |
A302E |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,227,045 (GRCm39) |
V1206A |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,311 (GRCm39) |
L1399P |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,387 (GRCm39) |
M165T |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,618,971 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,997 (GRCm39) |
I154V |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,885 (GRCm39) |
L288S |
unknown |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,349 (GRCm39) |
D553G |
probably benign |
Het |
| Phip |
A |
G |
9: 82,769,662 (GRCm39) |
L1147P |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,320,706 (GRCm39) |
D1567G |
probably benign |
Het |
| Pigz |
T |
C |
16: 31,760,858 (GRCm39) |
C20R |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 113,004,002 (GRCm39) |
K252R |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,625,874 (GRCm39) |
S1759T |
unknown |
Het |
| Rbm42 |
G |
T |
7: 30,345,136 (GRCm39) |
P212T |
unknown |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| St3gal4 |
T |
C |
9: 35,017,617 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
G |
T |
13: 19,554,521 (GRCm39) |
A151E |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,997 (GRCm39) |
I338N |
probably benign |
Het |
| Ticrr |
A |
T |
7: 79,334,012 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,713 (GRCm39) |
Y169N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,894,706 (GRCm39) |
I1560S |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,515,771 (GRCm39) |
D644Y |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,618,577 (GRCm39) |
I1141T |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,790,521 (GRCm39) |
M503V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,521 (GRCm39) |
S530P |
unknown |
Het |
| Zfp600 |
T |
A |
4: 146,133,182 (GRCm39) |
C617S |
unknown |
Het |
| Zfp819 |
A |
G |
7: 43,267,148 (GRCm39) |
R544G |
probably damaging |
Het |
|
| Other mutations in Slc9a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Slc9a3
|
APN |
13 |
74,308,421 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01299:Slc9a3
|
APN |
13 |
74,308,382 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01390:Slc9a3
|
APN |
13 |
74,298,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01814:Slc9a3
|
APN |
13 |
74,314,091 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02020:Slc9a3
|
APN |
13 |
74,306,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02072:Slc9a3
|
APN |
13 |
74,313,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02186:Slc9a3
|
APN |
13 |
74,311,233 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02878:Slc9a3
|
APN |
13 |
74,313,476 (GRCm39) |
nonsense |
probably null |
|
|
IGL03056:Slc9a3
|
APN |
13 |
74,298,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Slc9a3
|
UTSW |
13 |
74,306,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0280:Slc9a3
|
UTSW |
13 |
74,307,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Slc9a3
|
UTSW |
13 |
74,305,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Slc9a3
|
UTSW |
13 |
74,269,655 (GRCm39) |
missense |
unknown |
|
|
R0396:Slc9a3
|
UTSW |
13 |
74,305,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0893:Slc9a3
|
UTSW |
13 |
74,307,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Slc9a3
|
UTSW |
13 |
74,298,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1640:Slc9a3
|
UTSW |
13 |
74,306,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Slc9a3
|
UTSW |
13 |
74,311,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1850:Slc9a3
|
UTSW |
13 |
74,309,889 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1937:Slc9a3
|
UTSW |
13 |
74,314,175 (GRCm39) |
splice site |
probably null |
|
|
R2048:Slc9a3
|
UTSW |
13 |
74,311,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Slc9a3
|
UTSW |
13 |
74,269,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Slc9a3
|
UTSW |
13 |
74,306,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2883:Slc9a3
|
UTSW |
13 |
74,306,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Slc9a3
|
UTSW |
13 |
74,269,788 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4538:Slc9a3
|
UTSW |
13 |
74,309,851 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4580:Slc9a3
|
UTSW |
13 |
74,307,005 (GRCm39) |
nonsense |
probably null |
|
|
R4581:Slc9a3
|
UTSW |
13 |
74,312,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4841:Slc9a3
|
UTSW |
13 |
74,313,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Slc9a3
|
UTSW |
13 |
74,305,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Slc9a3
|
UTSW |
13 |
74,312,412 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5079:Slc9a3
|
UTSW |
13 |
74,312,406 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5329:Slc9a3
|
UTSW |
13 |
74,299,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5663:Slc9a3
|
UTSW |
13 |
74,311,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5876:Slc9a3
|
UTSW |
13 |
74,309,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Slc9a3
|
UTSW |
13 |
74,306,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6060:Slc9a3
|
UTSW |
13 |
74,299,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Slc9a3
|
UTSW |
13 |
74,303,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Slc9a3
|
UTSW |
13 |
74,312,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7145:Slc9a3
|
UTSW |
13 |
74,298,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7422:Slc9a3
|
UTSW |
13 |
74,299,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Slc9a3
|
UTSW |
13 |
74,305,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Slc9a3
|
UTSW |
13 |
74,308,395 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8032:Slc9a3
|
UTSW |
13 |
74,305,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Slc9a3
|
UTSW |
13 |
74,303,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Slc9a3
|
UTSW |
13 |
74,312,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8837:Slc9a3
|
UTSW |
13 |
74,305,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Slc9a3
|
UTSW |
13 |
74,311,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9111:Slc9a3
|
UTSW |
13 |
74,298,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9741:Slc9a3
|
UTSW |
13 |
74,306,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Slc9a3
|
UTSW |
13 |
74,313,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTCTCCCCTGATGAGGATC -3'
(R):5'- AAGAGCTCTGTGGACAAGC -3'
Sequencing Primer
(F):5'- TGAGGATCTGGACCCAAGCATC -3'
(R):5'- CTCTGTGGACAAGCAGGTTCTAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation