Incidental Mutation 'R4503:Slc49a4'
| ID |
331906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc49a4
|
| Ensembl Gene |
ENSMUSG00000022848 |
| Gene Name |
solute carrier family 49 member 4 |
| Synonyms |
Dirc2, RCC4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R4503 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
35514432-35589726 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35539787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 345
(M345V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023554]
[ENSMUST00000149892]
|
| AlphaFold |
Q8BFQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023554
AA Change: M345V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: M345V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
90 |
111 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
258 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
344 |
366 |
N/A |
INTRINSIC |
|
transmembrane domain
|
381 |
403 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149892
|
| SMART Domains |
Protein: ENSMUSP00000120775
Gene: ENSMUSG00000022848
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
90 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157168
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,607,672 (GRCm39) |
L30P |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,277,631 (GRCm39) |
H277R |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
G |
T |
16: 29,112,346 (GRCm39) |
N598K |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,560 (GRCm39) |
E1284G |
probably damaging |
Het |
| Cdk5 |
G |
A |
5: 24,624,617 (GRCm39) |
T258M |
possibly damaging |
Het |
| Col3a1 |
T |
C |
1: 45,387,837 (GRCm39) |
|
probably benign |
Het |
| Coro6 |
A |
G |
11: 77,360,272 (GRCm39) |
E414G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,301,334 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| H2bc18 |
A |
T |
3: 96,177,240 (GRCm39) |
K58M |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,665,335 (GRCm39) |
S653L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,187 (GRCm39) |
I451T |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,709,529 (GRCm39) |
E342G |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,539 (GRCm39) |
I15V |
probably benign |
Het |
| Or6aa1 |
T |
A |
7: 86,044,485 (GRCm39) |
T74S |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,652,399 (GRCm39) |
L222P |
probably damaging |
Het |
| Rpl5 |
T |
C |
5: 108,052,723 (GRCm39) |
F223S |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,445,052 (GRCm39) |
N2366S |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,916 (GRCm39) |
M758V |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,694 (GRCm39) |
E235G |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,435,663 (GRCm39) |
S419T |
probably benign |
Het |
| Sprr3 |
T |
C |
3: 92,364,683 (GRCm39) |
I54V |
possibly damaging |
Het |
| Tbck |
A |
G |
3: 132,456,981 (GRCm39) |
T632A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Tmem178 |
C |
T |
17: 81,293,693 (GRCm39) |
T162I |
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,186,280 (GRCm39) |
H770R |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,062,105 (GRCm39) |
S172P |
possibly damaging |
Het |
|
| Other mutations in Slc49a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02505:Slc49a4
|
APN |
16 |
35,555,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02990:Slc49a4
|
APN |
16 |
35,555,861 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0166:Slc49a4
|
UTSW |
16 |
35,539,684 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0319:Slc49a4
|
UTSW |
16 |
35,570,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0323:Slc49a4
|
UTSW |
16 |
35,539,730 (GRCm39) |
frame shift |
probably null |
|
|
R0497:Slc49a4
|
UTSW |
16 |
35,555,974 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1240:Slc49a4
|
UTSW |
16 |
35,518,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Slc49a4
|
UTSW |
16 |
35,539,736 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2115:Slc49a4
|
UTSW |
16 |
35,518,309 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4502:Slc49a4
|
UTSW |
16 |
35,539,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4563:Slc49a4
|
UTSW |
16 |
35,518,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Slc49a4
|
UTSW |
16 |
35,555,945 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5278:Slc49a4
|
UTSW |
16 |
35,518,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Slc49a4
|
UTSW |
16 |
35,555,986 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5717:Slc49a4
|
UTSW |
16 |
35,539,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5947:Slc49a4
|
UTSW |
16 |
35,550,676 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6176:Slc49a4
|
UTSW |
16 |
35,525,167 (GRCm39) |
missense |
probably benign |
|
|
R7155:Slc49a4
|
UTSW |
16 |
35,555,947 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7450:Slc49a4
|
UTSW |
16 |
35,589,344 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7645:Slc49a4
|
UTSW |
16 |
35,554,438 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7905:Slc49a4
|
UTSW |
16 |
35,589,320 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8425:Slc49a4
|
UTSW |
16 |
35,555,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8670:Slc49a4
|
UTSW |
16 |
35,556,005 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8827:Slc49a4
|
UTSW |
16 |
35,554,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9022:Slc49a4
|
UTSW |
16 |
35,570,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9421:Slc49a4
|
UTSW |
16 |
35,518,372 (GRCm39) |
missense |
|
|
|
R9779:Slc49a4
|
UTSW |
16 |
35,543,186 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGACGTACTTTCCTGTGAAC -3'
(R):5'- TGTGAGCTGTAGACTCCAAAC -3'
Sequencing Primer
(F):5'- GACGTACTTTCCTGTGAACTGAAAGC -3'
(R):5'- TAGACTCCAAACAGTTTATAAGAGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation