Incidental Mutation 'R5248:Slc7a1'
| ID |
398642 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
042819-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5248 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
148264220-148336714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148270798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 556
(V556D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048116]
[ENSMUST00000138257]
|
| AlphaFold |
Q09143 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048116
AA Change: V556D
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: V556D
| 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 |
probably benign
Transcript: ENSMUST00000138257
|
| SMART Domains |
Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
| Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
| Aebp1 |
C |
A |
11: 5,818,501 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,906,842 (GRCm39) |
A1034V |
possibly damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
| Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
| Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,418,620 (GRCm39) |
Q608H |
probably damaging |
Het |
| Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
| Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
| Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
| Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
| Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
| Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,615 (GRCm39) |
D2G |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
| Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
| Tcf25 |
G |
T |
8: 124,100,678 (GRCm39) |
A23S |
probably damaging |
Het |
| Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
| Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
| Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
probably damaging |
Het |
|
| Other mutations in Slc7a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01987:Slc7a1
|
APN |
5 |
148,274,002 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTACAGAGAGAAGCTGG -3'
(R):5'- GAGGTGACCCAAGGTATCTG -3'
Sequencing Primer
(F):5'- GGTATCGAATGCGGGTTCACC -3'
(R):5'- GGGGATAAAATGGATATCCCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation