Incidental Mutation 'R2895:Slc7a1'
| ID |
260741 |
| 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 |
040483-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2895 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
148264220-148336714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148277402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 371
(I371T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048116]
[ENSMUST00000138257]
[ENSMUST00000202457]
|
| AlphaFold |
Q09143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048116
AA Change: I371T
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: I371T
| 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: I371T
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: I371T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,093,252 (GRCm39) |
V1007A |
probably benign |
Het |
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Akirin1 |
T |
C |
4: 123,631,864 (GRCm39) |
E168G |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,598,667 (GRCm39) |
D44V |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,594,483 (GRCm39) |
I310V |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,935,424 (GRCm39) |
H661R |
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,708,016 (GRCm39) |
R25G |
probably damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,168 (GRCm39) |
T99K |
probably benign |
Het |
| Cep250 |
C |
A |
2: 155,834,042 (GRCm39) |
A1989D |
probably benign |
Het |
| Clasp1 |
T |
G |
1: 118,387,568 (GRCm39) |
V78G |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,312,091 (GRCm39) |
V1302A |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,922,452 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,178,901 (GRCm39) |
F858S |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,332 (GRCm39) |
S68T |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,741,820 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,922,562 (GRCm39) |
L688P |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,749,835 (GRCm39) |
D968G |
possibly damaging |
Het |
| Med16 |
G |
A |
10: 79,739,005 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
A |
G |
11: 115,495,865 (GRCm39) |
M98V |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,281,595 (GRCm39) |
I321N |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,344,877 (GRCm39) |
D116G |
possibly damaging |
Het |
| Neu1 |
A |
G |
17: 35,151,758 (GRCm39) |
D184G |
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
CTGTCTCCTCCA |
C |
X: 132,582,057 (GRCm39) |
|
probably null |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
A |
G |
6: 139,968,877 (GRCm39) |
I187T |
possibly damaging |
Het |
| Pot1b |
A |
T |
17: 55,994,939 (GRCm39) |
I241N |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ptpre |
G |
A |
7: 135,245,587 (GRCm39) |
W11* |
probably null |
Het |
| Rgsl1 |
T |
A |
1: 153,703,294 (GRCm39) |
E154V |
probably damaging |
Het |
| Rnasel |
T |
C |
1: 153,636,522 (GRCm39) |
I634T |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,490,467 (GRCm39) |
S492T |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,136,800 (GRCm39) |
V511E |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,788,366 (GRCm39) |
|
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,845 (GRCm39) |
S402R |
probably benign |
Het |
| Stfa3 |
C |
A |
16: 36,272,522 (GRCm39) |
L59F |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,629 (GRCm39) |
E756G |
possibly damaging |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly 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 |
|
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'- GAATGTGAACAGCGGCAGTC -3'
(R):5'- GATCTTGGTGAGAGCAGACG -3'
Sequencing Primer
(F):5'- CAGCGGCAGTCTGATAAAGTTC -3'
(R):5'- AGCAGACGCCCCTCCTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation