Incidental Mutation 'R0017:Slc45a1'
| ID |
8308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc45a1
|
| Ensembl Gene |
ENSMUSG00000039838 |
| Gene Name |
solute carrier family 45, member 1 |
| Synonyms |
Dnb5 |
| MMRRC Submission |
038312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R0017 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150713052-150736631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 150714023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 741
(D741Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037827]
[ENSMUST00000117997]
|
| AlphaFold |
Q8BIV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037827
AA Change: D741Y
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: D741Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
86 |
310 |
7.3e-11 |
PFAM |
|
Pfam:MFS_1
|
92 |
356 |
1.4e-12 |
PFAM |
|
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
|
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
|
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
transmembrane domain
|
680 |
702 |
N/A |
INTRINSIC |
|
transmembrane domain
|
712 |
734 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117997
|
| SMART Domains |
Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
87 |
307 |
1.6e-12 |
PFAM |
|
Pfam:MFS_1
|
92 |
362 |
2.4e-12 |
PFAM |
|
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
|
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
|
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1202 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.1%
- 10x: 41.8%
- 20x: 21.2%
|
| Validation Efficiency |
93% (76/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
| Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
| Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
| Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
| Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
| Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
| Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
| Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
| Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc45a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Slc45a1
|
APN |
4 |
150,728,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Slc45a1
|
APN |
4 |
150,722,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Slc45a1
|
APN |
4 |
150,723,176 (GRCm39) |
splice site |
probably benign |
|
|
IGL02752:Slc45a1
|
APN |
4 |
150,722,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02881:Slc45a1
|
APN |
4 |
150,722,987 (GRCm39) |
missense |
probably benign |
0.36 |
|
PIT4508001:Slc45a1
|
UTSW |
4 |
150,722,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0017:Slc45a1
|
UTSW |
4 |
150,714,023 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0449:Slc45a1
|
UTSW |
4 |
150,727,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0756:Slc45a1
|
UTSW |
4 |
150,727,054 (GRCm39) |
frame shift |
probably null |
|
|
R1435:Slc45a1
|
UTSW |
4 |
150,728,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Slc45a1
|
UTSW |
4 |
150,722,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1943:Slc45a1
|
UTSW |
4 |
150,728,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2186:Slc45a1
|
UTSW |
4 |
150,722,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3766:Slc45a1
|
UTSW |
4 |
150,722,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Slc45a1
|
UTSW |
4 |
150,722,996 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4697:Slc45a1
|
UTSW |
4 |
150,722,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Slc45a1
|
UTSW |
4 |
150,722,697 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5253:Slc45a1
|
UTSW |
4 |
150,722,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5387:Slc45a1
|
UTSW |
4 |
150,728,366 (GRCm39) |
intron |
probably benign |
|
|
R5914:Slc45a1
|
UTSW |
4 |
150,713,997 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6259:Slc45a1
|
UTSW |
4 |
150,722,817 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6290:Slc45a1
|
UTSW |
4 |
150,727,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6961:Slc45a1
|
UTSW |
4 |
150,714,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6981:Slc45a1
|
UTSW |
4 |
150,723,051 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7099:Slc45a1
|
UTSW |
4 |
150,714,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Slc45a1
|
UTSW |
4 |
150,719,669 (GRCm39) |
splice site |
probably null |
|
|
R7601:Slc45a1
|
UTSW |
4 |
150,713,994 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7615:Slc45a1
|
UTSW |
4 |
150,723,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7730:Slc45a1
|
UTSW |
4 |
150,715,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Slc45a1
|
UTSW |
4 |
150,728,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Slc45a1
|
UTSW |
4 |
150,722,766 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8768:Slc45a1
|
UTSW |
4 |
150,714,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9006:Slc45a1
|
UTSW |
4 |
150,722,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Slc45a1
|
UTSW |
4 |
150,723,071 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9388:Slc45a1
|
UTSW |
4 |
150,727,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9768:Slc45a1
|
UTSW |
4 |
150,722,982 (GRCm39) |
missense |
probably benign |
|
|
X0026:Slc45a1
|
UTSW |
4 |
150,728,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-21 |
Incidental Mutation