Incidental Mutation 'R9768:Slc45a1'
| ID |
733362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc45a1
|
| Ensembl Gene |
ENSMUSG00000039838 |
| Gene Name |
solute carrier family 45, member 1 |
| Synonyms |
Dnb5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R9768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150713052-150736631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150722982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 301
(T301A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037827]
[ENSMUST00000117997]
|
| AlphaFold |
Q8BIV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037827
AA Change: T301A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: T301A
| 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
AA Change: T301A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838
AA Change: T301A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524B15Rik |
C |
A |
11: 31,915,770 (GRCm39) |
F37L |
probably benign |
Het |
| Akna |
T |
C |
4: 63,292,636 (GRCm39) |
E1091G |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,650,101 (GRCm39) |
T697A |
probably benign |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,414 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,165,244 (GRCm39) |
I511L |
probably benign |
Het |
| Clp1 |
A |
C |
2: 84,556,477 (GRCm39) |
M1R |
probably null |
Het |
| Csrnp1 |
A |
C |
9: 119,801,819 (GRCm39) |
D413E |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,341,055 (GRCm39) |
S479P |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,408,603 (GRCm39) |
S413P |
probably damaging |
Het |
| Klb |
G |
T |
5: 65,537,373 (GRCm39) |
R901L |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lta4h |
G |
A |
10: 93,308,818 (GRCm39) |
V373I |
probably benign |
Het |
| Map3k1 |
G |
T |
13: 111,904,630 (GRCm39) |
Q385K |
probably benign |
Het |
| Mapk8ip2 |
A |
T |
15: 89,343,160 (GRCm39) |
D634V |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,217 (GRCm39) |
E526G |
probably damaging |
Het |
| Nipal4 |
C |
T |
11: 46,041,473 (GRCm39) |
V241M |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,227,045 (GRCm39) |
V1206E |
probably damaging |
Het |
| Pak6 |
A |
G |
2: 118,520,396 (GRCm39) |
Y129C |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,166,332 (GRCm39) |
K125N |
probably damaging |
Het |
| Pmm1 |
G |
A |
15: 81,840,460 (GRCm39) |
T95M |
possibly damaging |
Het |
| Prrt3 |
A |
T |
6: 113,474,032 (GRCm39) |
N335K |
probably damaging |
Het |
| Rsrc2 |
T |
C |
5: 123,868,561 (GRCm39) |
N361S |
probably benign |
Het |
| Spata19 |
A |
C |
9: 27,311,744 (GRCm39) |
D121A |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,395,617 (GRCm39) |
L1796* |
probably null |
Het |
| Stx2 |
A |
G |
5: 129,063,422 (GRCm39) |
S288P |
unknown |
Het |
| Tlk1 |
C |
T |
2: 70,600,400 (GRCm39) |
S93N |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,676,029 (GRCm39) |
D256G |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,218,720 (GRCm39) |
Y524H |
possibly damaging |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,509 (GRCm39) |
F122S |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,802,037 (GRCm39) |
N88S |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
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 |
|
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 |
|
X0026:Slc45a1
|
UTSW |
4 |
150,728,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCATTGATGCCTGTGAGGG -3'
(R):5'- TTCTCTCCACAGGTCTTGGAG -3'
Sequencing Primer
(F):5'- GAGCTGTCCCTGCTGATGAAG -3'
(R):5'- ACAGGTCTTGGAGGCGGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation