Incidental Mutation 'R9758:Slc44a5'
| ID |
732838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a5
|
| Ensembl Gene |
ENSMUSG00000028360 |
| Gene Name |
solute carrier family 44, member 5 |
| Synonyms |
LOC242259 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R9758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 153959322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 338
(I338F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089948
AA Change: I338F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: I338F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
323 |
683 |
6.3e-114 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,879,799 (GRCm39) |
Y220C |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,896,655 (GRCm39) |
S73P |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,286,902 (GRCm39) |
G276D |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,984,613 (GRCm39) |
M549K |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,606,283 (GRCm39) |
V319A |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,839,285 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
T |
12: 111,265,783 (GRCm39) |
V1383E |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,770,433 (GRCm39) |
E1819G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,054 (GRCm39) |
E163G |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,792 (GRCm39) |
R50* |
probably null |
Het |
| Cntn3 |
A |
G |
6: 102,183,511 (GRCm39) |
S715P |
probably damaging |
Het |
| Creb1 |
A |
T |
1: 64,598,909 (GRCm39) |
R95S |
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,492,710 (GRCm39) |
Y595C |
probably damaging |
Het |
| Cts7 |
C |
T |
13: 61,504,223 (GRCm39) |
E86K |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,440 (GRCm39) |
N113S |
unknown |
Het |
| Dhdds |
T |
C |
4: 133,727,706 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,938 (GRCm39) |
S998P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,985,395 (GRCm39) |
D3832G |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,182 (GRCm39) |
L344P |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,324,199 (GRCm39) |
T1256I |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,627 (GRCm39) |
D507E |
probably benign |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,877,670 (GRCm39) |
W177R |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,961 (GRCm39) |
S288G |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,789,519 (GRCm39) |
H275R |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,206,366 (GRCm39) |
T17A |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,800,894 (GRCm39) |
Y433* |
probably null |
Het |
| Gm6408 |
C |
A |
5: 146,420,628 (GRCm39) |
D169E |
probably benign |
Het |
| Gramd2b |
T |
A |
18: 56,611,972 (GRCm39) |
V145E |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hcn1 |
GCA |
GCAACA |
13: 118,112,305 (GRCm39) |
|
probably benign |
Het |
| Hif1an |
G |
A |
19: 44,558,378 (GRCm39) |
V293M |
probably damaging |
Het |
| Hyal3 |
A |
G |
9: 107,462,347 (GRCm39) |
D127G |
probably damaging |
Het |
| Ighg1 |
T |
A |
12: 113,293,252 (GRCm39) |
D146V |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,347 (GRCm39) |
D362E |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,080,961 (GRCm39) |
E601K |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,620 (GRCm39) |
P662T |
possibly damaging |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,229 (GRCm39) |
T151I |
probably benign |
Het |
| Ndufa10 |
A |
T |
1: 92,379,752 (GRCm39) |
I327N |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,082,439 (GRCm39) |
I53V |
possibly damaging |
Het |
| Or10z1 |
A |
G |
1: 174,077,902 (GRCm39) |
L197P |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,040 (GRCm39) |
V382A |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,685,876 (GRCm39) |
I1206F |
probably damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,918,331 (GRCm39) |
D386E |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,945,427 (GRCm39) |
F1460L |
probably damaging |
Het |
| Plcb2 |
A |
C |
2: 118,545,921 (GRCm39) |
M588R |
probably damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,893,260 (GRCm39) |
R216L |
possibly damaging |
Het |
| Psg28 |
G |
T |
7: 18,156,887 (GRCm39) |
Y449* |
probably null |
Het |
| Psg28 |
T |
A |
7: 18,164,602 (GRCm39) |
T37S |
probably benign |
Het |
| Psmd9 |
G |
T |
5: 123,372,745 (GRCm39) |
R76M |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,459,391 (GRCm39) |
D189G |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,397,666 (GRCm39) |
S363P |
probably benign |
Het |
| Sco1 |
T |
A |
11: 66,949,250 (GRCm39) |
D239E |
probably damaging |
Het |
| Sec24d |
C |
T |
3: 123,136,803 (GRCm39) |
T512M |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,046,442 (GRCm39) |
K441E |
probably benign |
Het |
| Slc4a3 |
A |
T |
1: 75,534,319 (GRCm39) |
I1161F |
probably damaging |
Het |
| Spmip11 |
T |
A |
15: 98,483,264 (GRCm39) |
L65I |
probably damaging |
Het |
| Tnfsf9 |
T |
A |
17: 57,414,355 (GRCm39) |
L261M |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,699,498 (GRCm39) |
R77C |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,168,637 (GRCm39) |
I831T |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,081,438 (GRCm39) |
I60V |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,603,230 (GRCm39) |
N860S |
|
Het |
| Zfp54 |
T |
A |
17: 21,654,149 (GRCm39) |
N214K |
probably benign |
Het |
| Zfp707 |
T |
C |
15: 75,845,418 (GRCm39) |
I94T |
|
Het |
|
| Other mutations in Slc44a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Slc44a5
|
APN |
3 |
153,968,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Slc44a5
|
APN |
3 |
153,968,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02219:Slc44a5
|
APN |
3 |
153,944,796 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02220:Slc44a5
|
APN |
3 |
153,956,608 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02314:Slc44a5
|
APN |
3 |
153,962,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Slc44a5
|
APN |
3 |
153,962,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Slc44a5
|
APN |
3 |
153,956,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03117:Slc44a5
|
APN |
3 |
153,956,714 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03144:Slc44a5
|
APN |
3 |
153,949,177 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4486001:Slc44a5
|
UTSW |
3 |
153,964,659 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0026:Slc44a5
|
UTSW |
3 |
153,945,907 (GRCm39) |
splice site |
probably benign |
|
|
R0190:Slc44a5
|
UTSW |
3 |
153,944,755 (GRCm39) |
missense |
probably null |
0.00 |
|
R0306:Slc44a5
|
UTSW |
3 |
153,975,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Slc44a5
|
UTSW |
3 |
153,939,782 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Slc44a5
|
UTSW |
3 |
153,971,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Slc44a5
|
UTSW |
3 |
153,971,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Slc44a5
|
UTSW |
3 |
153,949,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Slc44a5
|
UTSW |
3 |
153,963,357 (GRCm39) |
splice site |
probably null |
|
|
R1370:Slc44a5
|
UTSW |
3 |
153,948,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1613:Slc44a5
|
UTSW |
3 |
153,963,351 (GRCm39) |
splice site |
probably null |
|
|
R1713:Slc44a5
|
UTSW |
3 |
153,944,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1999:Slc44a5
|
UTSW |
3 |
153,964,130 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2143:Slc44a5
|
UTSW |
3 |
153,964,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2293:Slc44a5
|
UTSW |
3 |
153,945,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2367:Slc44a5
|
UTSW |
3 |
153,953,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3842:Slc44a5
|
UTSW |
3 |
153,967,031 (GRCm39) |
splice site |
probably benign |
|
|
R3953:Slc44a5
|
UTSW |
3 |
153,877,209 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4163:Slc44a5
|
UTSW |
3 |
153,967,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4509:Slc44a5
|
UTSW |
3 |
153,939,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Slc44a5
|
UTSW |
3 |
153,962,221 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4936:Slc44a5
|
UTSW |
3 |
153,959,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Slc44a5
|
UTSW |
3 |
153,949,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5083:Slc44a5
|
UTSW |
3 |
153,953,424 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5257:Slc44a5
|
UTSW |
3 |
153,948,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Slc44a5
|
UTSW |
3 |
153,966,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5586:Slc44a5
|
UTSW |
3 |
153,975,802 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5856:Slc44a5
|
UTSW |
3 |
153,964,029 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5894:Slc44a5
|
UTSW |
3 |
153,962,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Slc44a5
|
UTSW |
3 |
153,944,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6248:Slc44a5
|
UTSW |
3 |
153,969,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6413:Slc44a5
|
UTSW |
3 |
153,963,387 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6454:Slc44a5
|
UTSW |
3 |
153,948,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6594:Slc44a5
|
UTSW |
3 |
153,964,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6761:Slc44a5
|
UTSW |
3 |
153,945,714 (GRCm39) |
splice site |
probably null |
|
|
R6931:Slc44a5
|
UTSW |
3 |
153,964,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7027:Slc44a5
|
UTSW |
3 |
153,959,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7566:Slc44a5
|
UTSW |
3 |
153,975,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Slc44a5
|
UTSW |
3 |
153,679,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8011:Slc44a5
|
UTSW |
3 |
153,953,447 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8085:Slc44a5
|
UTSW |
3 |
153,928,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Slc44a5
|
UTSW |
3 |
153,975,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8765:Slc44a5
|
UTSW |
3 |
153,968,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9154:Slc44a5
|
UTSW |
3 |
153,953,373 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9291:Slc44a5
|
UTSW |
3 |
153,962,218 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9328:Slc44a5
|
UTSW |
3 |
153,964,678 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9647:Slc44a5
|
UTSW |
3 |
153,953,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9666:Slc44a5
|
UTSW |
3 |
153,945,926 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9695:Slc44a5
|
UTSW |
3 |
153,956,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTAAGACTGGCATGGGAAGGG -3'
(R):5'- TACAAAGCTGGCATGTGGC -3'
Sequencing Primer
(F):5'- GGGGGAACACTGTTTAAATTATGTAG -3'
(R):5'- ACCTGACATCTGCTATGAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation