Incidental Mutation 'R5393:Slc7a14'
| ID |
425942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a14
|
| Ensembl Gene |
ENSMUSG00000069072 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 |
| Synonyms |
|
| MMRRC Submission |
042965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R5393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
31257007-31364527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31311919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091259]
[ENSMUST00000108245]
|
| AlphaFold |
Q8BXR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091259
AA Change: S34P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
53 |
443 |
2.1e-44 |
PFAM |
|
Pfam:AA_permease
|
57 |
436 |
7.2e-38 |
PFAM |
|
transmembrane domain
|
563 |
585 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
627 |
677 |
9.2e-21 |
PFAM |
|
low complexity region
|
737 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108245
AA Change: S34P
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
53 |
445 |
2.5e-46 |
PFAM |
|
Pfam:AA_permease
|
57 |
437 |
6.9e-41 |
PFAM |
|
transmembrane domain
|
563 |
585 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
627 |
668 |
1.4e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.1013 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
A |
T |
16: 88,860,653 (GRCm39) |
Y60* |
probably null |
Het |
| Abca6 |
T |
A |
11: 110,135,121 (GRCm39) |
E221D |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,274 (GRCm39) |
D8G |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,024,869 (GRCm39) |
K809E |
possibly damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,574,011 (GRCm39) |
H4R |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,633 (GRCm39) |
S485P |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,864,143 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,216,015 (GRCm39) |
N94I |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,924 (GRCm39) |
N899S |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,997 (GRCm39) |
T463A |
probably benign |
Het |
| Coro2a |
A |
G |
4: 46,542,255 (GRCm39) |
S373P |
probably damaging |
Het |
| Cpsf6 |
G |
C |
10: 117,197,921 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,497,099 (GRCm39) |
N3099K |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,946 (GRCm39) |
E74D |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,391,683 (GRCm39) |
T671S |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,248 (GRCm39) |
S414T |
probably benign |
Het |
| Dyrk2 |
C |
T |
10: 118,695,753 (GRCm39) |
D502N |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,080,598 (GRCm39) |
L376Q |
possibly damaging |
Het |
| Efcab8 |
G |
A |
2: 153,622,903 (GRCm39) |
R24Q |
unknown |
Het |
| Eloc |
A |
C |
1: 16,718,192 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,515,819 (GRCm39) |
|
probably benign |
Het |
| Fam89b |
T |
C |
19: 5,778,733 (GRCm39) |
D152G |
probably damaging |
Het |
| Gm15455 |
G |
A |
1: 33,875,927 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,010,887 (GRCm39) |
Y238C |
probably damaging |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,502 (GRCm39) |
T12A |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,007 (GRCm39) |
|
probably null |
Het |
| Irf9 |
T |
C |
14: 55,843,914 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,277,653 (GRCm39) |
C280* |
probably null |
Het |
| Kcnk18 |
T |
C |
19: 59,208,271 (GRCm39) |
C36R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,603,913 (GRCm39) |
H243Q |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,785,051 (GRCm39) |
N125K |
probably benign |
Het |
| Lce1i |
T |
C |
3: 92,685,042 (GRCm39) |
S45G |
unknown |
Het |
| Lrmda |
A |
C |
14: 22,077,374 (GRCm39) |
D37A |
probably damaging |
Het |
| Marco |
A |
C |
1: 120,413,583 (GRCm39) |
D280E |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,157 (GRCm39) |
I112V |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,450 (GRCm39) |
Q180* |
probably null |
Het |
| Npdc1 |
A |
T |
2: 25,298,682 (GRCm39) |
M265L |
probably damaging |
Het |
| Nudcd3 |
T |
C |
11: 6,063,274 (GRCm39) |
K205R |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,326 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
| Pcdhga5 |
C |
T |
18: 37,829,720 (GRCm39) |
R723C |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 141,964,947 (GRCm39) |
E295D |
probably damaging |
Het |
| Poli |
C |
A |
18: 70,650,499 (GRCm39) |
E314* |
probably null |
Het |
| Ptpro |
A |
G |
6: 137,357,222 (GRCm39) |
N238D |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,159,084 (GRCm39) |
I920V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,187,375 (GRCm39) |
V1338M |
probably damaging |
Het |
| Saa3 |
T |
C |
7: 46,362,085 (GRCm39) |
Y53C |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,650 (GRCm39) |
E398D |
probably benign |
Het |
| Six3 |
T |
C |
17: 85,931,270 (GRCm39) |
S309P |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,617,829 (GRCm39) |
Q287K |
probably benign |
Het |
| Stard9 |
C |
T |
2: 120,533,387 (GRCm39) |
L522F |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,748,363 (GRCm39) |
|
probably null |
Het |
| Tbc1d8 |
A |
T |
1: 39,465,169 (GRCm39) |
V73E |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,104 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,370 (GRCm39) |
E1251G |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt5b |
A |
C |
6: 119,417,394 (GRCm39) |
L157R |
probably damaging |
Het |
| Zbtb24 |
T |
A |
10: 41,340,578 (GRCm39) |
V536E |
probably damaging |
Het |
| Zfp593 |
G |
A |
4: 133,972,615 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp995 |
A |
T |
17: 22,099,473 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Slc7a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02631:Slc7a14
|
APN |
3 |
31,292,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Slc7a14
|
APN |
3 |
31,311,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03341:Slc7a14
|
APN |
3 |
31,292,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03350:Slc7a14
|
APN |
3 |
31,291,558 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03379:Slc7a14
|
APN |
3 |
31,277,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Slc7a14
|
UTSW |
3 |
31,281,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Slc7a14
|
UTSW |
3 |
31,278,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1591:Slc7a14
|
UTSW |
3 |
31,291,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Slc7a14
|
UTSW |
3 |
31,291,511 (GRCm39) |
splice site |
probably benign |
|
|
R2057:Slc7a14
|
UTSW |
3 |
31,291,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Slc7a14
|
UTSW |
3 |
31,284,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Slc7a14
|
UTSW |
3 |
31,291,650 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3848:Slc7a14
|
UTSW |
3 |
31,291,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Slc7a14
|
UTSW |
3 |
31,311,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Slc7a14
|
UTSW |
3 |
31,284,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5043:Slc7a14
|
UTSW |
3 |
31,291,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Slc7a14
|
UTSW |
3 |
31,291,514 (GRCm39) |
splice site |
probably null |
|
|
R5345:Slc7a14
|
UTSW |
3 |
31,278,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5421:Slc7a14
|
UTSW |
3 |
31,278,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Slc7a14
|
UTSW |
3 |
31,278,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5771:Slc7a14
|
UTSW |
3 |
31,292,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Slc7a14
|
UTSW |
3 |
31,311,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Slc7a14
|
UTSW |
3 |
31,263,385 (GRCm39) |
missense |
probably benign |
|
|
R6020:Slc7a14
|
UTSW |
3 |
31,278,261 (GRCm39) |
missense |
probably benign |
|
|
R6107:Slc7a14
|
UTSW |
3 |
31,311,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Slc7a14
|
UTSW |
3 |
31,291,697 (GRCm39) |
missense |
probably benign |
|
|
R6491:Slc7a14
|
UTSW |
3 |
31,278,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Slc7a14
|
UTSW |
3 |
31,278,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Slc7a14
|
UTSW |
3 |
31,277,728 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7184:Slc7a14
|
UTSW |
3 |
31,281,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7271:Slc7a14
|
UTSW |
3 |
31,278,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Slc7a14
|
UTSW |
3 |
31,281,302 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7331:Slc7a14
|
UTSW |
3 |
31,311,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8227:Slc7a14
|
UTSW |
3 |
31,263,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8238:Slc7a14
|
UTSW |
3 |
31,281,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8524:Slc7a14
|
UTSW |
3 |
31,278,282 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8843:Slc7a14
|
UTSW |
3 |
31,311,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Slc7a14
|
UTSW |
3 |
31,277,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9011:Slc7a14
|
UTSW |
3 |
31,278,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Slc7a14
|
UTSW |
3 |
31,281,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Slc7a14
|
UTSW |
3 |
31,278,166 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1088:Slc7a14
|
UTSW |
3 |
31,278,148 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGAAGGACACGATGACCC -3'
(R):5'- TCCACTGGGCCTTTCATGAAAG -3'
Sequencing Primer
(F):5'- GACACGATGACCCCAGGC -3'
(R):5'- AATTGCTCCATGAGTTCCAGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation