Incidental Mutation 'R5697:Slc7a1'
| ID |
450733 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5697 (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 148270792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 558
(V558A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048116]
[ENSMUST00000138257]
|
| AlphaFold |
Q09143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048116
AA Change: V558A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: V558A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,713,630 (GRCm39) |
F550S |
possibly damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,616 (GRCm39) |
W203R |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,823,090 (GRCm39) |
T326I |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,010,170 (GRCm39) |
L309P |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,231,063 (GRCm39) |
M1149V |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
T |
8: 125,315,810 (GRCm39) |
H39Y |
unknown |
Het |
| Ccn2 |
A |
G |
10: 24,473,354 (GRCm39) |
T298A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,311,237 (GRCm39) |
Q1425* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,859,971 (GRCm39) |
L610P |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,190 (GRCm39) |
T424S |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,204 (GRCm39) |
D35G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,323,395 (GRCm39) |
V599G |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,102,772 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,527,952 (GRCm39) |
L320F |
probably damaging |
Het |
| H2bc22 |
C |
T |
13: 21,971,961 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,954,152 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,968 (GRCm39) |
E29K |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,598,477 (GRCm39) |
I137V |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,903,070 (GRCm39) |
T316A |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,342,686 (GRCm39) |
A642S |
probably null |
Het |
| Mrgprb3 |
G |
T |
7: 48,292,673 (GRCm39) |
L293M |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,885,155 (GRCm39) |
E1138G |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,576,012 (GRCm39) |
F379L |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,220,884 (GRCm39) |
K373R |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,190 (GRCm39) |
F293S |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,502,152 (GRCm39) |
Y66H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,720 (GRCm39) |
R5061G |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,288,683 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,045 (GRCm39) |
E480G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 179,239,247 (GRCm39) |
K111T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,350 (GRCm39) |
R597* |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,724,000 (GRCm39) |
V1043L |
probably benign |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,474 (GRCm39) |
L22R |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,917 (GRCm39) |
D107G |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,470 (GRCm39) |
Y103H |
probably benign |
Het |
| Zfp39 |
G |
T |
11: 58,780,661 (GRCm39) |
H700Q |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,046 (GRCm39) |
E134D |
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 |
|
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'- GAAAACGCTCGGCCTTACAGAG -3'
(R):5'- GTGACCCAAGGTATCTGCAG -3'
Sequencing Primer
(F):5'- CTCGGCCTTACAGAGAGAAGCTG -3'
(R):5'- ATGAGGAATGTTTGGGCA -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation