Incidental Mutation 'R9291:Slc44a5'
| ID |
704263 |
| 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 # |
R9291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 153962218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 384
(V384M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089948
AA Change: V384M
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: V384M
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,464 (GRCm39) |
N551S |
probably benign |
Het |
| Abcg5 |
C |
A |
17: 84,976,380 (GRCm39) |
V486L |
probably benign |
Het |
| Acoxl |
T |
A |
2: 127,814,493 (GRCm39) |
I303N |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,220,284 (GRCm39) |
W464L |
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,964,053 (GRCm39) |
D301G |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,429,688 (GRCm39) |
D115G |
probably benign |
Het |
| Cnfn |
T |
C |
7: 25,067,476 (GRCm39) |
D67G |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,142,539 (GRCm39) |
I76L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,682,213 (GRCm39) |
V865I |
probably damaging |
Het |
| Ctf1 |
T |
A |
7: 127,316,204 (GRCm39) |
L58Q |
probably damaging |
Het |
| Dennd6b |
C |
T |
15: 89,071,590 (GRCm39) |
V276M |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,901,215 (GRCm39) |
T483A |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,099 (GRCm39) |
I1772T |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,251 (GRCm39) |
I170T |
probably damaging |
Het |
| Ehd4 |
G |
T |
2: 119,921,755 (GRCm39) |
D500E |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,883,142 (GRCm39) |
I388T |
probably damaging |
Het |
| Entpd6 |
G |
A |
2: 150,608,959 (GRCm39) |
V348M |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,056,065 (GRCm39) |
C1746* |
probably null |
Het |
| Exosc2 |
G |
T |
2: 31,560,871 (GRCm39) |
M40I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,593,835 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gm8005 |
A |
G |
14: 42,258,885 (GRCm39) |
F148L |
|
Het |
| Hectd4 |
T |
C |
5: 121,487,028 (GRCm39) |
V3341A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,491,522 (GRCm39) |
V77A |
probably benign |
Het |
| Irf2bp1 |
T |
A |
7: 18,738,458 (GRCm39) |
C33S |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,688 (GRCm39) |
H586Q |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,390,041 (GRCm39) |
N619S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,475,140 (GRCm39) |
E13G |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,310,379 (GRCm39) |
D2731E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,883,938 (GRCm39) |
N2942S |
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,764,328 (GRCm39) |
T212M |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,575,416 (GRCm39) |
V41A |
probably benign |
Het |
| Moxd2 |
C |
A |
6: 40,857,362 (GRCm39) |
C466F |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,890,871 (GRCm39) |
S583P |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,758,511 (GRCm39) |
S583T |
possibly damaging |
Het |
| Nup214 |
T |
G |
2: 31,867,806 (GRCm39) |
M91R |
probably benign |
Het |
| Or4c121 |
A |
C |
2: 89,024,138 (GRCm39) |
M80R |
possibly damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,202 (GRCm39) |
I124T |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,768 (GRCm39) |
I114N |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,372,952 (GRCm39) |
Y90C |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,825,284 (GRCm39) |
T575N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,433,372 (GRCm39) |
N3417K |
probably damaging |
Het |
| Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,539,251 (GRCm39) |
Y81N |
probably benign |
Het |
| Rchy1 |
A |
G |
5: 92,099,765 (GRCm39) |
L191S |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,467,746 (GRCm39) |
D296G |
|
Het |
| Sftpb |
T |
A |
6: 72,286,880 (GRCm39) |
C261* |
probably null |
Het |
| Sgcd |
C |
T |
11: 46,870,166 (GRCm39) |
C265Y |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,716 (GRCm39) |
N132K |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,473,330 (GRCm39) |
T4861M |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,286,694 (GRCm39) |
E266V |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,750 (GRCm39) |
D903G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,611,535 (GRCm39) |
M165K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,706,799 (GRCm39) |
N282S |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,153,556 (GRCm39) |
I140M |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,943,058 (GRCm39) |
S783P |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,768,068 (GRCm39) |
T534M |
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,622,730 (GRCm39) |
R43M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,428,875 (GRCm39) |
Y164C |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,023 (GRCm39) |
Y165C |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,847,059 (GRCm39) |
T2614K |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,698,237 (GRCm39) |
F102S |
probably benign |
Het |
| Zyg11b |
A |
G |
4: 108,108,014 (GRCm39) |
M464T |
probably benign |
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 |
|
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 |
|
R9758:Slc44a5
|
UTSW |
3 |
153,959,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCTGCTTCTTAACGGATAAAC -3'
(R):5'- TCTGTTCCTGAGCAGCAAGG -3'
Sequencing Primer
(F):5'- CATTTAATTGTCAAGAAAGTGCAGAC -3'
(R):5'- TTCCTGAGCAGCAAGGTGGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation