Incidental Mutation 'R0016:Slc7a1'
| ID |
32690 |
| 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 |
038311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
148264220-148336714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148271393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 522
(V522A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048116]
[ENSMUST00000138257]
|
| AlphaFold |
Q09143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048116
AA Change: V522A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: V522A
| 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
AA Change: V522A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: V522A
| 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 |
|
| Meta Mutation Damage Score |
0.2672 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
| C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
| Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
| Cdh16 |
T |
A |
8: 105,344,264 (GRCm39) |
T92S |
probably benign |
Het |
| Chrd |
G |
C |
16: 20,553,058 (GRCm39) |
V162L |
possibly damaging |
Het |
| Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
| Cyp4a10 |
A |
T |
4: 115,378,304 (GRCm39) |
Q130L |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,674 (GRCm39) |
S294P |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,290 (GRCm39) |
I621V |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
| Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
| Fa2h |
T |
C |
8: 112,120,146 (GRCm39) |
Y80C |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
A |
T |
7: 42,358,046 (GRCm39) |
I152K |
probably benign |
Het |
| Gvin3 |
G |
A |
7: 106,202,453 (GRCm39) |
L264F |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
| Kpna2 |
T |
C |
11: 106,881,912 (GRCm39) |
T305A |
probably benign |
Het |
| Krtap22-2 |
A |
G |
16: 88,807,407 (GRCm39) |
|
probably benign |
Het |
| Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 35,083,947 (GRCm39) |
F81L |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Myef2l |
A |
T |
3: 10,154,379 (GRCm39) |
M383L |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,341,707 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,832,924 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
T |
2: 156,109,114 (GRCm39) |
K154* |
probably null |
Het |
| Pip4p1 |
C |
T |
14: 51,166,351 (GRCm39) |
R213Q |
probably damaging |
Het |
| Plekhj1 |
T |
C |
10: 80,632,250 (GRCm39) |
D74G |
possibly damaging |
Het |
| Plpp4 |
T |
C |
7: 128,925,148 (GRCm39) |
C128R |
probably damaging |
Het |
| Rcan3 |
A |
T |
4: 135,145,689 (GRCm39) |
|
probably null |
Het |
| Sh3rf1 |
T |
A |
8: 61,827,172 (GRCm39) |
M642K |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
| Spry2 |
C |
T |
14: 106,130,731 (GRCm39) |
V152M |
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
| Stag3 |
A |
G |
5: 138,289,643 (GRCm39) |
H271R |
possibly damaging |
Het |
| Stat4 |
T |
C |
1: 52,107,939 (GRCm39) |
V136A |
probably benign |
Het |
| Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
| Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
| Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
| Ticrr |
C |
T |
7: 79,343,540 (GRCm39) |
P1135L |
probably benign |
Het |
| Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
| Vmn1r78 |
A |
C |
7: 11,887,279 (GRCm39) |
S297R |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,676,810 (GRCm39) |
M2620T |
probably benign |
Het |
| Zkscan2 |
C |
A |
7: 123,099,219 (GRCm39) |
|
probably benign |
Het |
| Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCACCTCCAAGGCCAAACAAT -3'
(R):5'- AGCCGCTCTTATCATCACCGTGT -3'
Sequencing Primer
(F):5'- GTTCAGCTTTCTTACAGAAAAAAACC -3'
(R):5'- ccctgtactggggcatataaag -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation