Incidental Mutation 'IGL01987:Slc7a1'
ID |
181946 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc7a1
|
Ensembl Gene |
ENSMUSG00000041313 |
Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 |
Synonyms |
Rev-1, Atrc1, Rec-1, 4831426K01Rik, mCAT-1, Cat1, Atrc-1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01987
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
148264220-148336714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 148274002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 396
(F396L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048116]
[ENSMUST00000138257]
[ENSMUST00000202457]
|
AlphaFold |
Q09143 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048116
AA Change: F396L
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046714 Gene: ENSMUSG00000041313 AA Change: F396L
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
32 |
440 |
1.3e-51 |
PFAM |
Pfam:AA_permease
|
36 |
431 |
1.3e-42 |
PFAM |
transmembrane domain
|
487 |
509 |
N/A |
INTRINSIC |
transmembrane domain
|
519 |
541 |
N/A |
INTRINSIC |
Pfam:AA_permease_C
|
551 |
601 |
1.2e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138257
AA Change: F396L
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117781 Gene: ENSMUSG00000041313 AA Change: F396L
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
32 |
439 |
6e-52 |
PFAM |
Pfam:AA_permease
|
36 |
433 |
2.3e-43 |
PFAM |
transmembrane domain
|
487 |
509 |
N/A |
INTRINSIC |
transmembrane domain
|
519 |
541 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201860
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202457
|
SMART Domains |
Protein: ENSMUSP00000144000 Gene: ENSMUSG00000041313
Domain | Start | End | E-Value | Type |
Pfam:AA_permease
|
6 |
142 |
7.5e-14 |
PFAM |
Pfam:AA_permease_2
|
11 |
142 |
2.7e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutants die on the first day of birth and are very anemic. Peripheral blood contains 50% fewer red blood cells, reduced hemoglobin levels, and a defect in erythroid maturation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,565,202 (GRCm39) |
F77L |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,964,981 (GRCm39) |
F439L |
possibly damaging |
Het |
Abcb5 |
A |
T |
12: 118,891,093 (GRCm39) |
V468D |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,140,512 (GRCm39) |
|
probably null |
Het |
Ajm1 |
T |
C |
2: 25,467,970 (GRCm39) |
E647G |
possibly damaging |
Het |
Ankrd28 |
T |
C |
14: 31,500,931 (GRCm39) |
D50G |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,587,579 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,220,319 (GRCm39) |
|
probably null |
Het |
Dmtf1l |
C |
T |
X: 125,722,098 (GRCm39) |
E336K |
possibly damaging |
Het |
E2f5 |
T |
C |
3: 14,652,363 (GRCm39) |
|
probably benign |
Het |
Fam135b |
A |
G |
15: 71,333,964 (GRCm39) |
Y1077H |
probably benign |
Het |
Fap |
A |
G |
2: 62,359,020 (GRCm39) |
Y428H |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,708,899 (GRCm39) |
S595P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,922,748 (GRCm38) |
|
probably null |
Het |
Fzd3 |
A |
T |
14: 65,477,347 (GRCm39) |
V69E |
probably damaging |
Het |
Gcdh |
A |
T |
8: 85,620,110 (GRCm39) |
|
probably benign |
Het |
Ido1 |
A |
G |
8: 25,083,159 (GRCm39) |
Y89H |
probably benign |
Het |
Itga2 |
G |
A |
13: 114,984,482 (GRCm39) |
Q1010* |
probably null |
Het |
Man1a2 |
T |
C |
3: 100,551,873 (GRCm39) |
Y280C |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,094,731 (GRCm39) |
I256T |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,921,557 (GRCm39) |
K5E |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,162,804 (GRCm39) |
|
probably benign |
Het |
Or2at4 |
A |
T |
7: 99,384,478 (GRCm39) |
I43F |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,003 (GRCm39) |
I127L |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,727,507 (GRCm39) |
D644G |
probably damaging |
Het |
Pole |
T |
C |
5: 110,485,098 (GRCm39) |
V2280A |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,134,567 (GRCm39) |
M24L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,282 (GRCm39) |
N337S |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,977 (GRCm39) |
F141L |
probably damaging |
Het |
Shroom3 |
C |
A |
5: 93,090,048 (GRCm39) |
R933S |
probably damaging |
Het |
Slc24a2 |
G |
A |
4: 87,146,033 (GRCm39) |
P7L |
probably benign |
Het |
Slc25a32 |
G |
A |
15: 38,961,002 (GRCm39) |
T227I |
probably damaging |
Het |
Smok2a |
G |
A |
17: 13,445,377 (GRCm39) |
R318H |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,362,569 (GRCm39) |
V59A |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,454,558 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,827 (GRCm39) |
V27I |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,560,200 (GRCm39) |
T648A |
probably benign |
Het |
Tpbg |
A |
G |
9: 85,727,252 (GRCm39) |
Y407C |
probably damaging |
Het |
Wbp2nl |
A |
T |
15: 82,192,762 (GRCm39) |
M149L |
probably benign |
Het |
Yif1a |
T |
A |
19: 5,141,625 (GRCm39) |
M181K |
probably benign |
Het |
Zkscan8 |
A |
G |
13: 21,710,729 (GRCm39) |
L127S |
probably damaging |
Het |
|
Other mutations in Slc7a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
H8441:Slc7a1
|
UTSW |
5 |
148,271,355 (GRCm39) |
missense |
probably benign |
0.17 |
R0016:Slc7a1
|
UTSW |
5 |
148,271,393 (GRCm39) |
missense |
probably benign |
0.04 |
R0028:Slc7a1
|
UTSW |
5 |
148,272,321 (GRCm39) |
missense |
probably benign |
0.00 |
R0103:Slc7a1
|
UTSW |
5 |
148,289,236 (GRCm39) |
nonsense |
probably null |
|
R0103:Slc7a1
|
UTSW |
5 |
148,289,236 (GRCm39) |
nonsense |
probably null |
|
R0565:Slc7a1
|
UTSW |
5 |
148,288,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R0696:Slc7a1
|
UTSW |
5 |
148,277,366 (GRCm39) |
missense |
probably benign |
0.11 |
R1338:Slc7a1
|
UTSW |
5 |
148,282,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Slc7a1
|
UTSW |
5 |
148,272,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1926:Slc7a1
|
UTSW |
5 |
148,285,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R2895:Slc7a1
|
UTSW |
5 |
148,277,402 (GRCm39) |
missense |
probably benign |
0.06 |
R2910:Slc7a1
|
UTSW |
5 |
148,289,067 (GRCm39) |
missense |
probably benign |
0.00 |
R3721:Slc7a1
|
UTSW |
5 |
148,272,343 (GRCm39) |
nonsense |
probably null |
|
R3722:Slc7a1
|
UTSW |
5 |
148,272,343 (GRCm39) |
nonsense |
probably null |
|
R4028:Slc7a1
|
UTSW |
5 |
148,282,622 (GRCm39) |
missense |
probably benign |
0.01 |
R4114:Slc7a1
|
UTSW |
5 |
148,278,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Slc7a1
|
UTSW |
5 |
148,277,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Slc7a1
|
UTSW |
5 |
148,277,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Slc7a1
|
UTSW |
5 |
148,278,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:Slc7a1
|
UTSW |
5 |
148,289,209 (GRCm39) |
missense |
probably benign |
|
R4723:Slc7a1
|
UTSW |
5 |
148,272,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R5248:Slc7a1
|
UTSW |
5 |
148,270,798 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5697:Slc7a1
|
UTSW |
5 |
148,270,792 (GRCm39) |
missense |
probably benign |
0.00 |
R6027:Slc7a1
|
UTSW |
5 |
148,270,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6370:Slc7a1
|
UTSW |
5 |
148,277,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Slc7a1
|
UTSW |
5 |
148,271,468 (GRCm39) |
missense |
probably benign |
|
R7007:Slc7a1
|
UTSW |
5 |
148,289,256 (GRCm39) |
|
|
|
R7635:Slc7a1
|
UTSW |
5 |
148,289,046 (GRCm39) |
missense |
probably damaging |
0.99 |
R7984:Slc7a1
|
UTSW |
5 |
148,278,920 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8086:Slc7a1
|
UTSW |
5 |
148,288,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R8783:Slc7a1
|
UTSW |
5 |
148,279,643 (GRCm39) |
missense |
probably benign |
|
R8851:Slc7a1
|
UTSW |
5 |
148,285,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9314:Slc7a1
|
UTSW |
5 |
148,269,327 (GRCm39) |
missense |
probably benign |
0.00 |
R9394:Slc7a1
|
UTSW |
5 |
148,270,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9436:Slc7a1
|
UTSW |
5 |
148,270,730 (GRCm39) |
missense |
probably damaging |
1.00 |
V1024:Slc7a1
|
UTSW |
5 |
148,271,355 (GRCm39) |
missense |
probably benign |
0.17 |
Z1177:Slc7a1
|
UTSW |
5 |
148,288,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |