Incidental Mutation 'R7601:Slc45a1'
| ID |
588004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc45a1
|
| Ensembl Gene |
ENSMUSG00000039838 |
| Gene Name |
solute carrier family 45, member 1 |
| Synonyms |
Dnb5 |
| MMRRC Submission |
045643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R7601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150713052-150736631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150713994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 750
(N750K)
|
| 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: N750K
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: N750K
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,741 (GRCm39) |
L16P |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,193,882 (GRCm39) |
Y746* |
probably null |
Het |
| Abcd4 |
A |
G |
12: 84,660,719 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,715 (GRCm39) |
D342G |
probably damaging |
Het |
| Als2 |
G |
T |
1: 59,209,161 (GRCm39) |
T1466K |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,687,603 (GRCm39) |
I465N |
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,846,627 (GRCm39) |
S309P |
probably damaging |
Het |
| Cdh22 |
A |
G |
2: 164,954,466 (GRCm39) |
L685P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,772 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,464,655 (GRCm39) |
E145* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,905,129 (GRCm39) |
V161E |
probably benign |
Het |
| Eeig2 |
T |
A |
3: 108,895,628 (GRCm39) |
T151S |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,398,147 (GRCm39) |
G279D |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,405,042 (GRCm39) |
K20R |
possibly damaging |
Het |
| Hspa4l |
T |
C |
3: 40,738,788 (GRCm39) |
|
probably null |
Het |
| Impg2 |
A |
T |
16: 56,080,394 (GRCm39) |
I733L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,604,208 (GRCm39) |
V32A |
probably benign |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lum |
A |
T |
10: 97,404,168 (GRCm39) |
Y21F |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,216,454 (GRCm39) |
S2740P |
unknown |
Het |
| Nav1 |
A |
T |
1: 135,388,176 (GRCm39) |
D1082E |
unknown |
Het |
| Nmur1 |
A |
C |
1: 86,315,741 (GRCm39) |
C41W |
probably damaging |
Het |
| Or10ad1c |
G |
A |
15: 98,084,860 (GRCm39) |
H273Y |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,565 (GRCm39) |
V267A |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,597 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,674 (GRCm39) |
V76A |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,094,808 (GRCm39) |
S531P |
not run |
Het |
| Phtf1 |
T |
A |
3: 103,901,161 (GRCm39) |
H403Q |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,210,220 (GRCm39) |
|
probably null |
Het |
| Pigh |
G |
A |
12: 79,132,479 (GRCm39) |
T111I |
probably damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,304 (GRCm39) |
E88G |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,720,526 (GRCm39) |
T134M |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,809 (GRCm39) |
Y81F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,847,560 (GRCm39) |
S43P |
probably benign |
Het |
| Sephs2 |
A |
T |
7: 126,872,118 (GRCm39) |
I325K |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,001,897 (GRCm39) |
M519K |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,072,152 (GRCm39) |
E273G |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,480 (GRCm39) |
S724F |
unknown |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGTGAGAACGGAATTGC -3'
(R):5'- AGTACTTTCTGGCTCAGATCCTTG -3'
Sequencing Primer
(F):5'- GTGAGAACGGAATTGCATCTTCAC -3'
(R):5'- GGCTCAGATCCTTGTCTCTCTGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation