Incidental Mutation 'R6975:Slc9a9'
| ID |
542425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a9
|
| Ensembl Gene |
ENSMUSG00000031129 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 9 |
| Synonyms |
5730527A11Rik, Nhe9 |
| MMRRC Submission |
045085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
94551962-95112498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94842499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 350
(Y350C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033463]
|
| AlphaFold |
Q8BZ00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033463
AA Change: Y350C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: Y350C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_H_Exchanger
|
28 |
486 |
2.6e-89 |
PFAM |
|
low complexity region
|
594 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
635 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6223 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
| Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
| Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
| Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
| Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
| Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
| Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
| Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
| Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
| Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
| Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
| Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
| Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
probably damaging |
Het |
|
| Other mutations in Slc9a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Slc9a9
|
APN |
9 |
94,937,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01394:Slc9a9
|
APN |
9 |
95,005,090 (GRCm39) |
missense |
probably benign |
|
|
IGL01434:Slc9a9
|
APN |
9 |
94,901,247 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01715:Slc9a9
|
APN |
9 |
94,842,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01821:Slc9a9
|
APN |
9 |
95,111,003 (GRCm39) |
missense |
probably benign |
|
|
IGL02963:Slc9a9
|
APN |
9 |
94,902,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03211:Slc9a9
|
APN |
9 |
95,020,043 (GRCm39) |
splice site |
probably benign |
|
|
ANU18:Slc9a9
|
UTSW |
9 |
94,937,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0306:Slc9a9
|
UTSW |
9 |
95,019,987 (GRCm39) |
missense |
probably benign |
|
|
R0382:Slc9a9
|
UTSW |
9 |
94,567,270 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0388:Slc9a9
|
UTSW |
9 |
94,821,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1509:Slc9a9
|
UTSW |
9 |
95,111,011 (GRCm39) |
missense |
probably benign |
|
|
R1785:Slc9a9
|
UTSW |
9 |
94,901,246 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4018:Slc9a9
|
UTSW |
9 |
94,567,216 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4167:Slc9a9
|
UTSW |
9 |
95,110,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4170:Slc9a9
|
UTSW |
9 |
95,110,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4695:Slc9a9
|
UTSW |
9 |
94,818,502 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5400:Slc9a9
|
UTSW |
9 |
94,594,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:Slc9a9
|
UTSW |
9 |
94,691,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Slc9a9
|
UTSW |
9 |
94,937,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6015:Slc9a9
|
UTSW |
9 |
94,821,602 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6102:Slc9a9
|
UTSW |
9 |
94,818,482 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6317:Slc9a9
|
UTSW |
9 |
94,821,512 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6398:Slc9a9
|
UTSW |
9 |
94,552,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6476:Slc9a9
|
UTSW |
9 |
94,567,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6501:Slc9a9
|
UTSW |
9 |
94,818,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6603:Slc9a9
|
UTSW |
9 |
94,821,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6611:Slc9a9
|
UTSW |
9 |
94,821,531 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6700:Slc9a9
|
UTSW |
9 |
94,818,364 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6824:Slc9a9
|
UTSW |
9 |
95,109,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Slc9a9
|
UTSW |
9 |
94,552,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6987:Slc9a9
|
UTSW |
9 |
94,552,043 (GRCm39) |
start gained |
probably benign |
|
|
R7325:Slc9a9
|
UTSW |
9 |
94,594,951 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7374:Slc9a9
|
UTSW |
9 |
94,937,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7437:Slc9a9
|
UTSW |
9 |
95,110,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7614:Slc9a9
|
UTSW |
9 |
94,737,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Slc9a9
|
UTSW |
9 |
95,111,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Slc9a9
|
UTSW |
9 |
94,737,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8514:Slc9a9
|
UTSW |
9 |
94,818,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9011:Slc9a9
|
UTSW |
9 |
94,818,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9168:Slc9a9
|
UTSW |
9 |
94,595,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Slc9a9
|
UTSW |
9 |
94,552,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Slc9a9
|
UTSW |
9 |
95,111,107 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0010:Slc9a9
|
UTSW |
9 |
94,567,261 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCAAGATTTACCTGGGTTTC -3'
(R):5'- ATGCTTCCATCTCTCCGGAG -3'
Sequencing Primer
(F):5'- TCTAGCCCTGCATTTGAC -3'
(R):5'- TGCTTACCAAGAGAATTGTTAATGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation