Incidental Mutation 'PIT4508001:Slc45a1'
| ID |
556220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc45a1
|
| Ensembl Gene |
ENSMUSG00000039838 |
| Gene Name |
solute carrier family 45, member 1 |
| Synonyms |
Dnb5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
PIT4508001 (G1)
|
| Quality Score |
121.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150713052-150736631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 150722892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 331
(A331S)
|
| 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: A331S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: A331S
| 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: A331S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838
AA Change: A331S
| 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: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
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 |
|
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 |
|
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'- GAAAGCTGACACTGATGGCCTG -3'
(R):5'- TAACCCTGAGTGTCACCACC -3'
Sequencing Primer
(F):5'- AAGTAATTGTCATGGCCCGC -3'
(R):5'- ACCGTGCTCACCCTGATTAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation