Incidental Mutation 'R9610:Slc44a4'
| ID |
724184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a4
|
| Ensembl Gene |
ENSMUSG00000007034 |
| Gene Name |
solute carrier family 44, member 4 |
| Synonyms |
NG22, 2210409B01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9610 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35147793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 611
(S611F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
| AlphaFold |
Q91VA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007249
AA Change: S611F
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: S611F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
311 |
674 |
5.4e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007253
|
| SMART Domains |
Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:BNR_3
|
74 |
249 |
1e-16 |
PFAM |
|
Pfam:BNR_2
|
82 |
377 |
1.8e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169230
AA Change: S459F
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: S459F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
157 |
524 |
3.9e-129 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,023,399 (GRCm39) |
T265S |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,257,890 (GRCm39) |
I1311M |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,743 (GRCm39) |
Y750N |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,745 (GRCm39) |
Y750* |
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,407,595 (GRCm39) |
M295K |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,427,316 (GRCm39) |
L1007P |
possibly damaging |
Het |
| Cnep1r1 |
A |
G |
8: 88,860,457 (GRCm39) |
*126W |
probably null |
Het |
| Cstf1 |
T |
A |
2: 172,214,984 (GRCm39) |
I35N |
probably benign |
Het |
| Cstpp1 |
T |
C |
2: 91,135,127 (GRCm39) |
D111G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,830,823 (GRCm39) |
L1690P |
possibly damaging |
Het |
| Dnm2 |
A |
T |
9: 21,414,973 (GRCm39) |
K677* |
probably null |
Het |
| Dscaml1 |
C |
A |
9: 45,579,522 (GRCm39) |
N356K |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,346,008 (GRCm39) |
D446G |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,668,518 (GRCm39) |
N74D |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,681,216 (GRCm39) |
I450M |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,091,035 (GRCm39) |
D460E |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,824,258 (GRCm39) |
Y493C |
probably benign |
Het |
| Fuom |
T |
A |
7: 139,679,828 (GRCm39) |
E121V |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,657,585 (GRCm39) |
T864A |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gcsh |
T |
A |
8: 117,720,125 (GRCm39) |
Y14F |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,194,605 (GRCm39) |
I937M |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,600 (GRCm39) |
I370M |
possibly damaging |
Het |
| Hypk |
T |
C |
2: 121,288,154 (GRCm39) |
S72P |
probably damaging |
Het |
| Izumo1r |
T |
G |
9: 14,811,840 (GRCm39) |
I183L |
possibly damaging |
Het |
| Kctd13 |
G |
T |
7: 126,544,180 (GRCm39) |
G293C |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,318 (GRCm39) |
S2G |
probably benign |
Het |
| Mark4 |
C |
A |
7: 19,167,338 (GRCm39) |
R467L |
possibly damaging |
Het |
| Mrps33 |
T |
A |
6: 39,779,422 (GRCm39) |
K91M |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,350,078 (GRCm39) |
V608D |
possibly damaging |
Het |
| Myb |
G |
A |
10: 21,030,627 (GRCm39) |
Q57* |
probably null |
Het |
| Or51f1 |
T |
G |
7: 102,506,147 (GRCm39) |
H114P |
probably damaging |
Het |
| Peg10 |
GCAC |
GCACCAC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
| Pip4k2c |
A |
C |
10: 127,036,069 (GRCm39) |
L266R |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,609,213 (GRCm39) |
Y173H |
probably benign |
Het |
| Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
| Ppp1r16b |
T |
A |
2: 158,537,998 (GRCm39) |
Y40N |
probably damaging |
Het |
| Prl5a1 |
A |
G |
13: 28,329,492 (GRCm39) |
E57G |
possibly damaging |
Het |
| Psmb10 |
A |
G |
8: 106,664,144 (GRCm39) |
F75S |
probably benign |
Het |
| Ptprm |
C |
A |
17: 67,000,483 (GRCm39) |
R1167M |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,541 (GRCm39) |
H358R |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,397,115 (GRCm39) |
S684P |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,517,869 (GRCm39) |
I162V |
probably damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,529 (GRCm39) |
V440A |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 32,073,246 (GRCm39) |
K70M |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,430,620 (GRCm39) |
I177V |
probably benign |
Het |
| Syt7 |
G |
A |
19: 10,421,459 (GRCm39) |
D548N |
probably benign |
Het |
| Tcf7l2 |
A |
G |
19: 55,899,038 (GRCm39) |
D215G |
probably null |
Het |
| Tex14 |
T |
A |
11: 87,377,084 (GRCm39) |
F143I |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,119,411 (GRCm39) |
V26A |
possibly damaging |
Het |
| Tpx2 |
T |
A |
2: 152,715,124 (GRCm39) |
V115D |
probably benign |
Het |
| Tubb2b |
C |
A |
13: 34,311,742 (GRCm39) |
K350N |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,036,936 (GRCm39) |
V472A |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,642,555 (GRCm39) |
G1389V |
possibly damaging |
Het |
| Vps39 |
T |
C |
2: 120,172,485 (GRCm39) |
R183G |
probably damaging |
Het |
| Wnk4 |
G |
T |
11: 101,159,250 (GRCm39) |
E556* |
probably null |
Het |
| Xpo7 |
T |
A |
14: 70,925,617 (GRCm39) |
E474V |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,275,341 (GRCm39) |
R234G |
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,737,663 (GRCm39) |
I50N |
possibly damaging |
Het |
| Zfat |
A |
G |
15: 68,051,655 (GRCm39) |
V713A |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,545 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,651,022 (GRCm39) |
V502A |
probably benign |
Het |
|
| Other mutations in Slc44a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Slc44a4
|
APN |
17 |
35,149,216 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01097:Slc44a4
|
APN |
17 |
35,140,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01296:Slc44a4
|
APN |
17 |
35,140,674 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01606:Slc44a4
|
APN |
17 |
35,147,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Slc44a4
|
APN |
17 |
35,140,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02026:Slc44a4
|
APN |
17 |
35,140,832 (GRCm39) |
splice site |
probably benign |
|
|
IGL02119:Slc44a4
|
APN |
17 |
35,147,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02338:Slc44a4
|
APN |
17 |
35,142,786 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02383:Slc44a4
|
APN |
17 |
35,146,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02526:Slc44a4
|
APN |
17 |
35,147,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02744:Slc44a4
|
APN |
17 |
35,146,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Slc44a4
|
APN |
17 |
35,140,279 (GRCm39) |
missense |
probably damaging |
0.98 |
|
ANU74:Slc44a4
|
UTSW |
17 |
35,140,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Slc44a4
|
UTSW |
17 |
35,140,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0007:Slc44a4
|
UTSW |
17 |
35,140,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0007:Slc44a4
|
UTSW |
17 |
35,140,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0452:Slc44a4
|
UTSW |
17 |
35,147,071 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0894:Slc44a4
|
UTSW |
17 |
35,147,466 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1136:Slc44a4
|
UTSW |
17 |
35,146,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Slc44a4
|
UTSW |
17 |
35,140,844 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1779:Slc44a4
|
UTSW |
17 |
35,140,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Slc44a4
|
UTSW |
17 |
35,142,399 (GRCm39) |
splice site |
probably benign |
|
|
R3499:Slc44a4
|
UTSW |
17 |
35,140,656 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3732:Slc44a4
|
UTSW |
17 |
35,140,537 (GRCm39) |
synonymous |
silent |
|
|
R4084:Slc44a4
|
UTSW |
17 |
35,136,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4197:Slc44a4
|
UTSW |
17 |
35,137,228 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4536:Slc44a4
|
UTSW |
17 |
35,142,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Slc44a4
|
UTSW |
17 |
35,146,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Slc44a4
|
UTSW |
17 |
35,140,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Slc44a4
|
UTSW |
17 |
35,142,430 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6396:Slc44a4
|
UTSW |
17 |
35,147,860 (GRCm39) |
nonsense |
probably null |
|
|
R6660:Slc44a4
|
UTSW |
17 |
35,149,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6860:Slc44a4
|
UTSW |
17 |
35,140,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Slc44a4
|
UTSW |
17 |
35,142,798 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6947:Slc44a4
|
UTSW |
17 |
35,147,044 (GRCm39) |
missense |
probably null |
1.00 |
|
R7250:Slc44a4
|
UTSW |
17 |
35,137,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7297:Slc44a4
|
UTSW |
17 |
35,146,888 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7425:Slc44a4
|
UTSW |
17 |
35,140,667 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7696:Slc44a4
|
UTSW |
17 |
35,147,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Slc44a4
|
UTSW |
17 |
35,142,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8244:Slc44a4
|
UTSW |
17 |
35,140,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Slc44a4
|
UTSW |
17 |
35,140,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Slc44a4
|
UTSW |
17 |
35,147,253 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8929:Slc44a4
|
UTSW |
17 |
35,136,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Slc44a4
|
UTSW |
17 |
35,140,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Slc44a4
|
UTSW |
17 |
35,140,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9611:Slc44a4
|
UTSW |
17 |
35,147,793 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9729:Slc44a4
|
UTSW |
17 |
35,140,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9755:Slc44a4
|
UTSW |
17 |
35,136,331 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGTCCTGACTTCTATGTAGGG -3'
(R):5'- ACTGGCAATGACGTAGGCTC -3'
Sequencing Primer
(F):5'- GTCGTCGTCCTGGATAAAGTCAC -3'
(R):5'- CAATGACGTAGGCTCCCATGATG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation