Incidental Mutation 'R5944:Slc7a4'
| ID |
460500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a4
|
| Ensembl Gene |
ENSMUSG00000022756 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 |
| Synonyms |
|
| MMRRC Submission |
044136-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R5944 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17392220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 405
(V405I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000171002]
[ENSMUST00000172164]
[ENSMUST00000231283]
[ENSMUST00000231552]
[ENSMUST00000231615]
[ENSMUST00000232385]
[ENSMUST00000231806]
[ENSMUST00000232226]
[ENSMUST00000232186]
[ENSMUST00000231645]
[ENSMUST00000232336]
|
| AlphaFold |
Q8BLQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023441
|
| SMART Domains |
Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
385 |
7.9e-139 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063544
AA Change: V405I
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: V405I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
37 |
436 |
1.4e-49 |
PFAM |
|
Pfam:AA_permease
|
41 |
426 |
9.4e-38 |
PFAM |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
transmembrane domain
|
508 |
530 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
540 |
590 |
1.4e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116648
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171002
|
| SMART Domains |
Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
197 |
1e-65 |
PFAM |
|
Pfam:P2X_receptor
|
185 |
362 |
7e-63 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172164
AA Change: V405I
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: V405I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
37 |
498 |
2.6e-46 |
PFAM |
|
Pfam:AA_permease
|
41 |
423 |
4.5e-36 |
PFAM |
|
transmembrane domain
|
508 |
530 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
540 |
590 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231552
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231615
AA Change: V200I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232385
AA Change: V200I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
86% (51/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
T |
5: 114,384,041 (GRCm39) |
R2190L |
probably damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,433,702 (GRCm39) |
R689H |
probably damaging |
Het |
| Apol7b |
A |
T |
15: 77,307,967 (GRCm39) |
V176E |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,426,137 (GRCm39) |
F319S |
probably damaging |
Het |
| Bcar3 |
T |
A |
3: 122,316,932 (GRCm39) |
D634E |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,749,167 (GRCm39) |
W95R |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,791,115 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
G |
T |
16: 38,148,672 (GRCm39) |
T252N |
probably damaging |
Het |
| Clasrp |
A |
T |
7: 19,328,431 (GRCm39) |
Y116N |
probably damaging |
Het |
| Cldn17 |
T |
C |
16: 88,303,597 (GRCm39) |
E44G |
probably damaging |
Het |
| Cyfip1 |
G |
A |
7: 55,521,878 (GRCm39) |
E61K |
probably damaging |
Het |
| Dcaf13 |
A |
C |
15: 39,010,072 (GRCm39) |
M419L |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,753,472 (GRCm39) |
D269G |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,372,605 (GRCm39) |
Y258C |
probably damaging |
Het |
| Fdxr |
T |
A |
11: 115,160,672 (GRCm39) |
T288S |
probably benign |
Het |
| Frs3 |
T |
C |
17: 48,003,233 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
T |
A |
6: 131,145,363 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
G |
7: 83,405,743 (GRCm39) |
D187G |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,250 (GRCm39) |
V284A |
probably benign |
Het |
| Hspa9 |
T |
C |
18: 35,082,076 (GRCm39) |
T177A |
possibly damaging |
Het |
| Ifi202b |
T |
A |
1: 173,791,365 (GRCm39) |
M438L |
probably benign |
Het |
| Ighv1-3 |
T |
C |
12: 114,445,239 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,996,139 (GRCm39) |
A95E |
probably benign |
Het |
| Krt9 |
C |
T |
11: 100,079,265 (GRCm39) |
S709N |
unknown |
Het |
| Lmntd1 |
A |
T |
6: 145,373,042 (GRCm39) |
S164T |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,234,486 (GRCm39) |
M1K |
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,853 (GRCm39) |
C28* |
probably null |
Het |
| Or52n4b |
G |
A |
7: 108,144,484 (GRCm39) |
A249T |
possibly damaging |
Het |
| Or5b94 |
C |
T |
19: 12,652,283 (GRCm39) |
T238I |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,223 (GRCm39) |
M198L |
probably benign |
Het |
| Papola |
T |
A |
12: 105,778,644 (GRCm39) |
F341I |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,859,785 (GRCm39) |
L914P |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,087,230 (GRCm39) |
V132A |
probably benign |
Het |
| Serpini1 |
G |
A |
3: 75,547,606 (GRCm39) |
D373N |
probably damaging |
Het |
| Sigirr |
T |
C |
7: 140,671,300 (GRCm39) |
Y394C |
probably damaging |
Het |
| Slc29a4 |
G |
A |
5: 142,704,573 (GRCm39) |
E372K |
probably damaging |
Het |
| Spatc1 |
T |
C |
15: 76,168,138 (GRCm39) |
L199P |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,772,775 (GRCm39) |
M149V |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,785,931 (GRCm39) |
A449T |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,898 (GRCm39) |
N203D |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,667,564 (GRCm39) |
|
probably null |
Het |
| Trav3-1 |
T |
C |
14: 52,818,449 (GRCm39) |
I41T |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,313,089 (GRCm39) |
D525E |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,232,620 (GRCm39) |
V848A |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,769 (GRCm39) |
D185V |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Slc7a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02717:Slc7a4
|
APN |
16 |
17,392,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0066:Slc7a4
|
UTSW |
16 |
17,391,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0066:Slc7a4
|
UTSW |
16 |
17,391,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0402:Slc7a4
|
UTSW |
16 |
17,393,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1426:Slc7a4
|
UTSW |
16 |
17,391,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1926:Slc7a4
|
UTSW |
16 |
17,393,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Slc7a4
|
UTSW |
16 |
17,391,319 (GRCm39) |
splice site |
probably null |
|
|
R2140:Slc7a4
|
UTSW |
16 |
17,392,408 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4496:Slc7a4
|
UTSW |
16 |
17,393,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4548:Slc7a4
|
UTSW |
16 |
17,393,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4570:Slc7a4
|
UTSW |
16 |
17,392,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4631:Slc7a4
|
UTSW |
16 |
17,392,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Slc7a4
|
UTSW |
16 |
17,393,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Slc7a4
|
UTSW |
16 |
17,392,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Slc7a4
|
UTSW |
16 |
17,393,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Slc7a4
|
UTSW |
16 |
17,391,227 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5650:Slc7a4
|
UTSW |
16 |
17,393,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5666:Slc7a4
|
UTSW |
16 |
17,393,815 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6769:Slc7a4
|
UTSW |
16 |
17,393,184 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7381:Slc7a4
|
UTSW |
16 |
17,392,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7470:Slc7a4
|
UTSW |
16 |
17,392,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7903:Slc7a4
|
UTSW |
16 |
17,393,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Slc7a4
|
UTSW |
16 |
17,391,230 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8003:Slc7a4
|
UTSW |
16 |
17,392,315 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9300:Slc7a4
|
UTSW |
16 |
17,392,399 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9452:Slc7a4
|
UTSW |
16 |
17,391,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9569:Slc7a4
|
UTSW |
16 |
17,393,262 (GRCm39) |
missense |
|
|
|
R9674:Slc7a4
|
UTSW |
16 |
17,392,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTACCAAGATGCCAAG -3'
(R):5'- ATTGTCTACGCCATGGCTGC -3'
Sequencing Primer
(F):5'- GTTCCAGGGCTGCATCCATC -3'
(R):5'- CCGATGGGCTCTTCTTCCAGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation