Incidental Mutation 'R0306:Slc44a5'
| ID |
35790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a5
|
| Ensembl Gene |
ENSMUSG00000028360 |
| Gene Name |
solute carrier family 44, member 5 |
| Synonyms |
LOC242259 |
| MMRRC Submission |
038517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153975638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 683
(N683S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089948
AA Change: N683S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: N683S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144677
|
| Meta Mutation Damage Score |
0.6830 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
94% (61/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
T |
C |
6: 48,953,020 (GRCm39) |
V315A |
probably damaging |
Het |
| BC028528 |
C |
T |
3: 95,797,132 (GRCm39) |
|
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,394 (GRCm39) |
F329S |
probably damaging |
Het |
| Cd209a |
A |
G |
8: 3,795,535 (GRCm39) |
Y120H |
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,003,172 (GRCm39) |
|
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,896 (GRCm39) |
N58D |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,896 (GRCm39) |
|
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,723 (GRCm39) |
E372G |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,209,373 (GRCm39) |
V270A |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,747,322 (GRCm39) |
|
probably benign |
Het |
| Ddx52 |
G |
T |
11: 83,835,474 (GRCm39) |
L133F |
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,349,888 (GRCm39) |
I131F |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,654,635 (GRCm39) |
S719T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
| Dytn |
G |
A |
1: 63,724,272 (GRCm39) |
P3S |
possibly damaging |
Het |
| Fmn2 |
T |
C |
1: 174,437,050 (GRCm39) |
|
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,546 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,438,300 (GRCm39) |
|
probably benign |
Het |
| Il15 |
T |
A |
8: 83,061,083 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,927,855 (GRCm39) |
G852D |
probably damaging |
Het |
| Kbtbd4 |
A |
G |
2: 90,744,530 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
C |
A |
18: 34,937,070 (GRCm39) |
Q451K |
probably benign |
Het |
| Lrfn2 |
A |
T |
17: 49,403,283 (GRCm39) |
I469F |
probably damaging |
Het |
| Mep1a |
A |
T |
17: 43,813,534 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,944,986 (GRCm39) |
F70S |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,195,651 (GRCm39) |
P1009Q |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,796,094 (GRCm39) |
Y334C |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,910,019 (GRCm39) |
Y180* |
probably null |
Het |
| Nup210l |
T |
C |
3: 90,114,675 (GRCm39) |
I1750T |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,559,010 (GRCm39) |
I12N |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,907 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,060 (GRCm39) |
I34F |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,676,944 (GRCm39) |
L1008P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,819,003 (GRCm39) |
V759A |
possibly damaging |
Het |
| Prdm10 |
C |
A |
9: 31,227,520 (GRCm39) |
Q42K |
probably damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,822 (GRCm39) |
|
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,788,540 (GRCm39) |
C138R |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,179,893 (GRCm39) |
M1437T |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,606,000 (GRCm39) |
|
probably null |
Het |
| Serpinf1 |
T |
C |
11: 75,304,761 (GRCm39) |
Y200C |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,167 (GRCm39) |
H130R |
probably damaging |
Het |
| Slc22a1 |
A |
G |
17: 12,881,485 (GRCm39) |
F335L |
probably benign |
Het |
| Slc9a9 |
A |
T |
9: 95,019,987 (GRCm39) |
T519S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,618,013 (GRCm39) |
L348Q |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,332,855 (GRCm39) |
D521G |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Srp19 |
T |
C |
18: 34,467,629 (GRCm39) |
|
probably benign |
Het |
| Stk35 |
T |
A |
2: 129,643,683 (GRCm39) |
Y222* |
probably null |
Het |
| Syt10 |
T |
G |
15: 89,711,191 (GRCm39) |
K114T |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,180 (GRCm39) |
V662A |
probably benign |
Het |
| Ttll4 |
G |
A |
1: 74,735,916 (GRCm39) |
R1066Q |
probably benign |
Het |
| Tulp2 |
C |
T |
7: 45,168,000 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,895 (GRCm39) |
I28K |
possibly damaging |
Het |
| Vmn2r118 |
A |
C |
17: 55,915,616 (GRCm39) |
F445V |
possibly damaging |
Het |
| Zfp142 |
C |
T |
1: 74,609,341 (GRCm39) |
E1485K |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,621 (GRCm39) |
A292E |
possibly damaging |
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 |
|
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 |
|
R9758:Slc44a5
|
UTSW |
3 |
153,959,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAACTGACCTGGGACACAGAATG -3'
(R):5'- GACTTCTGATGGCTTCACAGGCTAC -3'
Sequencing Primer
(F):5'- TCGATGTAATAATAAGGGCTGATTG -3'
(R):5'- TCACAGGCTACAGTGTGGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation