Incidental Mutation 'R8681:Slc44a4'
| ID |
661774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a4
|
| Ensembl Gene |
ENSMUSG00000007034 |
| Gene Name |
solute carrier family 44, member 4 |
| Synonyms |
NG22, 2210409B01Rik |
| MMRRC Submission |
068536-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35147253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 549
(I549V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
| AlphaFold |
Q91VA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007249
AA Change: I549V
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: I549V
| 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 |
possibly damaging
Transcript: ENSMUST00000169230
AA Change: I397V
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: I397V
| 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: 99.2%
- 20x: 97.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,231,908 (GRCm39) |
V1347A |
possibly damaging |
Het |
| Adam32 |
G |
A |
8: 25,327,811 (GRCm39) |
T750I |
unknown |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,817,899 (GRCm39) |
D438G |
probably null |
Het |
| Anks1b |
T |
A |
10: 89,885,868 (GRCm39) |
M188K |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,338,373 (GRCm39) |
F583S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,439,074 (GRCm39) |
Y477C |
unknown |
Het |
| Cep112 |
T |
C |
11: 108,316,478 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,406 (GRCm39) |
V422A |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,038,600 (GRCm39) |
L1050P |
probably damaging |
Het |
| Col23a1 |
A |
T |
11: 51,458,756 (GRCm39) |
T298S |
possibly damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,065 (GRCm39) |
T129S |
probably damaging |
Het |
| Cyp2c38 |
A |
C |
19: 39,390,135 (GRCm39) |
V355G |
possibly damaging |
Het |
| Cyp4a30b |
G |
A |
4: 115,314,942 (GRCm39) |
V175M |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,886,913 (GRCm39) |
Y67* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,994,270 (GRCm39) |
D389G |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,265,830 (GRCm39) |
F146L |
probably benign |
Het |
| Gm10118 |
C |
T |
10: 63,762,756 (GRCm39) |
V61M |
unknown |
Het |
| Gm9611 |
T |
C |
14: 42,118,026 (GRCm39) |
D102G |
|
Het |
| Grik5 |
G |
A |
7: 24,709,897 (GRCm39) |
A946V |
probably benign |
Het |
| Il17c |
A |
G |
8: 123,150,207 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,460,893 (GRCm39) |
L22P |
probably damaging |
Het |
| Kcnh2 |
G |
T |
5: 24,536,981 (GRCm39) |
T201K |
probably benign |
Het |
| Klrb1 |
A |
C |
6: 128,687,012 (GRCm39) |
N173K |
possibly damaging |
Het |
| Kmt2d |
T |
A |
15: 98,743,948 (GRCm39) |
Q3737H |
unknown |
Het |
| Lemd3 |
T |
C |
10: 120,767,728 (GRCm39) |
D682G |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,241,216 (GRCm39) |
V51A |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,070,314 (GRCm39) |
V32I |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,754,360 (GRCm39) |
M403L |
probably benign |
Het |
| Mms19 |
G |
A |
19: 41,937,915 (GRCm39) |
L765F |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,900 (GRCm39) |
T5S |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,242,960 (GRCm39) |
I958L |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 113,021,429 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
A |
9: 59,775,394 (GRCm39) |
V1002I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,127,048 (GRCm39) |
K379R |
probably damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,473,208 (GRCm39) |
S216G |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,263 (GRCm39) |
E246G |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,890,801 (GRCm39) |
M36L |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pkp2 |
A |
T |
16: 16,048,545 (GRCm39) |
M317L |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,768,234 (GRCm39) |
H137Q |
probably damaging |
Het |
| Prrx2 |
G |
T |
2: 30,735,519 (GRCm39) |
D25Y |
unknown |
Het |
| Ptprf |
T |
C |
4: 118,088,844 (GRCm39) |
D653G |
probably benign |
Het |
| Rps6kl1 |
T |
A |
12: 85,194,629 (GRCm39) |
E94V |
probably damaging |
Het |
| Slc44a1 |
A |
T |
4: 53,481,510 (GRCm39) |
D27V |
probably damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,361,914 (GRCm39) |
T302A |
probably benign |
Het |
| Spic |
T |
A |
10: 88,511,847 (GRCm39) |
K136N |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,392 (GRCm39) |
L473P |
probably damaging |
Het |
| Syce1 |
G |
A |
7: 140,361,987 (GRCm39) |
T32I |
possibly damaging |
Het |
| Tars2 |
G |
A |
3: 95,658,199 (GRCm39) |
Q209* |
probably null |
Het |
| Tmem9b |
A |
G |
7: 109,344,527 (GRCm39) |
V100A |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,128 (GRCm39) |
I131V |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,001,877 (GRCm39) |
T54I |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,747 (GRCm39) |
E1016G |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,482 (GRCm39) |
T56A |
possibly damaging |
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 |
|
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 |
|
R9610:Slc44a4
|
UTSW |
17 |
35,147,793 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- CCACAAGCTAAGAGGTGAGC -3'
(R):5'- TCTGACCTGAGAACATTCCTCATG -3'
Sequencing Primer
(F):5'- CAGGTGGTGGGCTGAGCAG -3'
(R):5'- GCATTTTTGGCCGAGACAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation