Incidental Mutation 'R6645:Slc13a4'
ID |
526066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc13a4
|
Ensembl Gene |
ENSMUSG00000029843 |
Gene Name |
solute carrier family 13 (sodium/sulfate symporters), member 4 |
Synonyms |
SUT-1, SUT1, 9630060C05Rik |
MMRRC Submission |
044766-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R6645 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35245774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 624
(Q624K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031868
AA Change: Q624K
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: Q624K
Domain | Start | End | E-Value | Type |
Pfam:Na_sulph_symp
|
5 |
609 |
3.2e-105 |
PFAM |
Pfam:CitMHS
|
45 |
166 |
1.1e-15 |
PFAM |
Pfam:CitMHS
|
251 |
531 |
8.9e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anp32e |
T |
A |
3: 95,844,414 (GRCm39) |
F95I |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,057,318 (GRCm39) |
K628R |
possibly damaging |
Het |
Arid4b |
A |
T |
13: 14,294,737 (GRCm39) |
E6D |
probably damaging |
Het |
Atxn10 |
G |
T |
15: 85,260,904 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
A |
G |
10: 4,510,974 (GRCm39) |
I678V |
possibly damaging |
Het |
Ccdc18 |
T |
A |
5: 108,286,796 (GRCm39) |
V110D |
probably benign |
Het |
Cep85l |
C |
T |
10: 53,177,768 (GRCm39) |
E322K |
probably benign |
Het |
Cilp |
A |
T |
9: 65,186,587 (GRCm39) |
Y894F |
possibly damaging |
Het |
Ddx4 |
A |
G |
13: 112,777,708 (GRCm39) |
S62P |
possibly damaging |
Het |
Dph7 |
T |
C |
2: 24,855,663 (GRCm39) |
V154A |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,594,206 (GRCm39) |
S579P |
probably benign |
Het |
Fam53a |
G |
T |
5: 33,758,128 (GRCm39) |
Q332K |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,874 (GRCm39) |
D1110G |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,442,442 (GRCm39) |
V136E |
possibly damaging |
Het |
Greb1 |
G |
T |
12: 16,748,580 (GRCm39) |
H1132Q |
probably benign |
Het |
Jph1 |
A |
G |
1: 17,161,985 (GRCm39) |
S226P |
probably damaging |
Het |
Kbtbd8 |
C |
T |
6: 95,103,730 (GRCm39) |
R460* |
probably null |
Het |
Lama5 |
T |
A |
2: 179,821,463 (GRCm39) |
N3059Y |
probably damaging |
Het |
Lipc |
G |
A |
9: 70,711,030 (GRCm39) |
T289I |
probably damaging |
Het |
Lrrc2 |
T |
C |
9: 110,799,175 (GRCm39) |
W241R |
probably damaging |
Het |
Mfn2 |
T |
A |
4: 147,979,069 (GRCm39) |
I88F |
probably damaging |
Het |
Mms19 |
G |
C |
19: 41,943,630 (GRCm39) |
N366K |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,368,118 (GRCm39) |
T293A |
probably benign |
Het |
Ndfip2 |
T |
A |
14: 105,529,707 (GRCm39) |
Y179N |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,806,790 (GRCm39) |
D1909G |
probably benign |
Het |
Obscn |
C |
T |
11: 58,976,088 (GRCm39) |
S2013N |
probably damaging |
Het |
Oca2 |
G |
T |
7: 55,964,522 (GRCm39) |
A357S |
probably benign |
Het |
Or8b43 |
T |
C |
9: 38,360,219 (GRCm39) |
L17S |
probably damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,562 (GRCm39) |
L153F |
probably benign |
Het |
Pde7b |
C |
A |
10: 20,486,312 (GRCm39) |
|
probably null |
Het |
Ppef2 |
T |
C |
5: 92,378,320 (GRCm39) |
N625S |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,204,856 (GRCm39) |
L192Q |
probably damaging |
Het |
Satb2 |
T |
C |
1: 56,836,166 (GRCm39) |
I542V |
possibly damaging |
Het |
Sgpp2 |
C |
T |
1: 78,336,799 (GRCm39) |
T59M |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,749,235 (GRCm39) |
T782A |
possibly damaging |
Het |
Slc9a3 |
T |
A |
13: 74,312,291 (GRCm39) |
H629Q |
probably damaging |
Het |
Slitrk3 |
G |
T |
3: 72,957,194 (GRCm39) |
A526E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,722,198 (GRCm39) |
D994V |
probably benign |
Het |
Sptssa |
T |
C |
12: 54,693,275 (GRCm39) |
Y53C |
probably damaging |
Het |
Srsf10 |
T |
C |
4: 135,590,874 (GRCm39) |
S159P |
possibly damaging |
Het |
Tbce |
T |
C |
13: 14,179,814 (GRCm39) |
T341A |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,935,423 (GRCm39) |
L1875P |
probably benign |
Het |
Tkt |
G |
A |
14: 30,292,168 (GRCm39) |
G425R |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,511,326 (GRCm39) |
I17M |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,066,721 (GRCm39) |
S311G |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,029,750 (GRCm39) |
Y492H |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,255,528 (GRCm39) |
I1535T |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,576,247 (GRCm39) |
N373Y |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,464,297 (GRCm39) |
V179E |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,910,451 (GRCm39) |
E3405G |
probably benign |
Het |
Wac |
A |
T |
18: 7,973,523 (GRCm39) |
Q212H |
probably damaging |
Het |
Washc4 |
C |
T |
10: 83,408,059 (GRCm39) |
R555* |
probably null |
Het |
Zmat4 |
G |
A |
8: 24,287,417 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Slc13a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Slc13a4
|
APN |
6 |
35,266,759 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00975:Slc13a4
|
APN |
6 |
35,251,910 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01069:Slc13a4
|
APN |
6 |
35,245,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01319:Slc13a4
|
APN |
6 |
35,284,288 (GRCm39) |
splice site |
probably null |
|
IGL01560:Slc13a4
|
APN |
6 |
35,248,538 (GRCm39) |
splice site |
probably benign |
|
IGL02125:Slc13a4
|
APN |
6 |
35,255,223 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02415:Slc13a4
|
APN |
6 |
35,260,172 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02888:Slc13a4
|
APN |
6 |
35,245,775 (GRCm39) |
missense |
probably benign |
0.10 |
R0047:Slc13a4
|
UTSW |
6 |
35,264,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0047:Slc13a4
|
UTSW |
6 |
35,264,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0532:Slc13a4
|
UTSW |
6 |
35,264,339 (GRCm39) |
splice site |
probably null |
|
R0747:Slc13a4
|
UTSW |
6 |
35,255,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R1391:Slc13a4
|
UTSW |
6 |
35,248,597 (GRCm39) |
missense |
probably damaging |
0.96 |
R2106:Slc13a4
|
UTSW |
6 |
35,264,799 (GRCm39) |
missense |
probably damaging |
0.99 |
R2253:Slc13a4
|
UTSW |
6 |
35,257,418 (GRCm39) |
missense |
probably benign |
0.00 |
R3195:Slc13a4
|
UTSW |
6 |
35,245,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R3689:Slc13a4
|
UTSW |
6 |
35,245,845 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3698:Slc13a4
|
UTSW |
6 |
35,251,892 (GRCm39) |
missense |
probably benign |
0.06 |
R3785:Slc13a4
|
UTSW |
6 |
35,264,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:Slc13a4
|
UTSW |
6 |
35,248,539 (GRCm39) |
splice site |
probably null |
|
R5400:Slc13a4
|
UTSW |
6 |
35,278,777 (GRCm39) |
nonsense |
probably null |
|
R6142:Slc13a4
|
UTSW |
6 |
35,278,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R6851:Slc13a4
|
UTSW |
6 |
35,278,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R7200:Slc13a4
|
UTSW |
6 |
35,264,285 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7513:Slc13a4
|
UTSW |
6 |
35,260,272 (GRCm39) |
splice site |
probably null |
|
R7590:Slc13a4
|
UTSW |
6 |
35,256,398 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7673:Slc13a4
|
UTSW |
6 |
35,253,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R7706:Slc13a4
|
UTSW |
6 |
35,247,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7971:Slc13a4
|
UTSW |
6 |
35,248,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Slc13a4
|
UTSW |
6 |
35,245,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Slc13a4
|
UTSW |
6 |
35,245,814 (GRCm39) |
missense |
probably benign |
0.21 |
R8486:Slc13a4
|
UTSW |
6 |
35,247,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8767:Slc13a4
|
UTSW |
6 |
35,245,783 (GRCm39) |
missense |
probably benign |
0.21 |
R8795:Slc13a4
|
UTSW |
6 |
35,260,230 (GRCm39) |
missense |
probably benign |
0.01 |
R9145:Slc13a4
|
UTSW |
6 |
35,247,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9431:Slc13a4
|
UTSW |
6 |
35,278,742 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc13a4
|
UTSW |
6 |
35,255,227 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Slc13a4
|
UTSW |
6 |
35,266,785 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Slc13a4
|
UTSW |
6 |
35,266,784 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAGGCTTACAGTGTTTTCTG -3'
(R):5'- TGGCCTCAGAATGATCAGGG -3'
Sequencing Primer
(F):5'- TTCTGGTCTTCAAAAAGAGAGAGCTG -3'
(R):5'- GCCTCAGAATGATCAGGGCTTTC -3'
|
Posted On |
2018-06-22 |