Incidental Mutation 'R9436:Slc7a1'
| ID |
713277 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
148264220-148336714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148270730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 579
(W579R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048116]
[ENSMUST00000138257]
|
| AlphaFold |
Q09143 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048116
AA Change: W579R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: W579R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,909,975 (GRCm39) |
T340A |
probably benign |
Het |
| Adamts2 |
G |
T |
11: 50,694,507 (GRCm39) |
R1098L |
probably benign |
Het |
| Add1 |
A |
T |
5: 34,763,273 (GRCm39) |
R154* |
probably null |
Het |
| Alpk1 |
A |
G |
3: 127,478,924 (GRCm39) |
V41A |
|
Het |
| Anapc1 |
T |
C |
2: 128,518,045 (GRCm39) |
T270A |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,694,041 (GRCm39) |
A84D |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,774,654 (GRCm39) |
C1412S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Chrm5 |
T |
C |
2: 112,309,824 (GRCm39) |
R431G |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,735,541 (GRCm39) |
C84* |
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,508,348 (GRCm39) |
E1842A |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,538,507 (GRCm39) |
Q393* |
probably null |
Het |
| Hinfp |
A |
T |
9: 44,209,276 (GRCm39) |
Y308N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,454,886 (GRCm39) |
D113G |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,761 (GRCm39) |
L392H |
probably damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,880 (GRCm39) |
M1I |
probably null |
Het |
| Krt17 |
T |
A |
11: 100,148,325 (GRCm39) |
D372V |
probably damaging |
Het |
| Mrtfb |
T |
A |
16: 13,223,151 (GRCm39) |
Y796* |
probably null |
Het |
| Myo3a |
T |
A |
2: 22,412,235 (GRCm39) |
Y751* |
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,782,276 (GRCm39) |
|
probably null |
Het |
| Nfkbib |
C |
A |
7: 28,465,800 (GRCm39) |
W16C |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,106 (GRCm39) |
V101A |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,483 (GRCm39) |
S437P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,336,969 (GRCm39) |
F64S |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,125,670 (GRCm39) |
H1155L |
|
Het |
| Rbp3 |
A |
G |
14: 33,677,234 (GRCm39) |
D394G |
possibly damaging |
Het |
| Rnmt |
T |
A |
18: 68,442,410 (GRCm39) |
V180E |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,947,300 (GRCm39) |
K5* |
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,575,963 (GRCm39) |
V652E |
probably damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,257 (GRCm39) |
D51G |
possibly damaging |
Het |
| Smyd4 |
T |
A |
11: 75,293,017 (GRCm39) |
L649Q |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,374,602 (GRCm39) |
R954G |
possibly damaging |
Het |
| Sp4 |
T |
C |
12: 118,202,000 (GRCm39) |
E744G |
possibly damaging |
Het |
| Spag16 |
C |
T |
1: 69,892,539 (GRCm39) |
L107F |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,650,272 (GRCm39) |
D268G |
probably benign |
Het |
| Tat |
G |
T |
8: 110,718,492 (GRCm39) |
G85W |
probably damaging |
Het |
| Tchp |
G |
T |
5: 114,847,446 (GRCm39) |
E88D |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,775,633 (GRCm39) |
N369S |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,153,617 (GRCm39) |
D152G |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,600,320 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,772,263 (GRCm39) |
I2592M |
unknown |
Het |
| Unc80 |
T |
G |
1: 66,732,964 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,826 (GRCm39) |
Y79H |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,221,063 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,133,898 (GRCm39) |
I48M |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,094 (GRCm39) |
F210L |
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 |
|
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 |
|
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'- CCATGTTGTCTGAGGTGAAAGG -3'
(R):5'- TGGAGGTGACCCAAGGTATC -3'
Sequencing Primer
(F):5'- GAGGCGGGTTCTGCTACATTAAC -3'
(R):5'- GTGACCCAAGGTATCTGCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation