Incidental Mutation 'R0764:Slc35f4'
| ID |
72567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f4
|
| Ensembl Gene |
ENSMUSG00000021852 |
| Gene Name |
solute carrier family 35, member F4 |
| Synonyms |
4930550L21Rik |
| MMRRC Submission |
038944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R0764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49535976-49763354 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 49543796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074368]
[ENSMUST00000138884]
|
| AlphaFold |
Q8BZK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074368
|
| SMART Domains |
Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
transmembrane domain
|
160 |
182 |
N/A |
INTRINSIC |
|
Pfam:SLC35F
|
216 |
435 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138884
|
| SMART Domains |
Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EmrE
|
18 |
143 |
1e-12 |
PFAM |
|
Pfam:EamA
|
57 |
135 |
8.4e-9 |
PFAM |
|
Pfam:DUF914
|
68 |
314 |
4.8e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228016
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,950,772 (GRCm39) |
Y898N |
probably damaging |
Het |
| Acp4 |
T |
C |
7: 43,901,738 (GRCm39) |
|
probably benign |
Het |
| Adipor2 |
T |
C |
6: 119,334,215 (GRCm39) |
I332V |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,248,885 (GRCm39) |
K555N |
possibly damaging |
Het |
| Angpt4 |
A |
G |
2: 151,753,204 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
G |
T |
7: 51,187,590 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
C |
T |
13: 94,616,387 (GRCm39) |
|
probably benign |
Het |
| Cbl |
A |
T |
9: 44,075,449 (GRCm39) |
C399S |
probably damaging |
Het |
| Cdkl2 |
C |
A |
5: 92,168,136 (GRCm39) |
V353L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,705,017 (GRCm39) |
Y500C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,083,798 (GRCm39) |
S1242P |
probably damaging |
Het |
| Crhr1 |
C |
T |
11: 104,050,152 (GRCm39) |
R66W |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,749,907 (GRCm39) |
E170G |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,600,685 (GRCm39) |
F305L |
probably damaging |
Het |
| Fam76a |
C |
T |
4: 132,638,010 (GRCm39) |
G198R |
probably damaging |
Het |
| Gm43302 |
T |
A |
5: 105,428,355 (GRCm39) |
I130F |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,424,832 (GRCm39) |
I745N |
possibly damaging |
Het |
| Ina |
T |
A |
19: 47,012,087 (GRCm39) |
*502K |
probably null |
Het |
| Kdm1b |
A |
T |
13: 47,222,079 (GRCm39) |
D506V |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,659,249 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
A |
15: 75,092,572 (GRCm39) |
F97Y |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,353,613 (GRCm39) |
D1215E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,879 (GRCm39) |
|
probably benign |
Het |
| Nectin2 |
T |
A |
7: 19,483,096 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2aj5 |
G |
T |
16: 19,425,182 (GRCm39) |
P79T |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,340 (GRCm39) |
V138A |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,961,520 (GRCm39) |
|
probably benign |
Het |
| Otog |
A |
G |
7: 45,949,918 (GRCm39) |
D2460G |
probably benign |
Het |
| Pcgf1 |
T |
C |
6: 83,056,150 (GRCm39) |
C2R |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,357,142 (GRCm39) |
V674M |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,611 (GRCm39) |
P218S |
probably damaging |
Het |
| Plod3 |
C |
T |
5: 137,018,437 (GRCm39) |
|
probably benign |
Het |
| Purb |
C |
T |
11: 6,425,661 (GRCm39) |
V76M |
probably damaging |
Het |
| Ranbp1 |
C |
A |
16: 18,058,022 (GRCm39) |
E181* |
probably null |
Het |
| Rit2 |
T |
C |
18: 31,286,754 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,566 (GRCm39) |
T399K |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,746 (GRCm39) |
|
probably null |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf17 |
C |
T |
16: 11,133,063 (GRCm39) |
T47M |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,649,933 (GRCm39) |
I97T |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,730,604 (GRCm39) |
|
probably benign |
Het |
| Zfp113 |
T |
A |
5: 138,143,506 (GRCm39) |
Q248L |
probably damaging |
Het |
|
| Other mutations in Slc35f4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01511:Slc35f4
|
APN |
14 |
49,536,334 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01640:Slc35f4
|
APN |
14 |
49,556,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01942:Slc35f4
|
APN |
14 |
49,762,962 (GRCm39) |
splice site |
probably benign |
|
|
IGL01990:Slc35f4
|
APN |
14 |
49,541,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02097:Slc35f4
|
APN |
14 |
49,543,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02803:Slc35f4
|
APN |
14 |
49,541,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0005:Slc35f4
|
UTSW |
14 |
49,559,943 (GRCm39) |
splice site |
probably benign |
|
|
R0238:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0238:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0239:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0239:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1884:Slc35f4
|
UTSW |
14 |
49,551,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Slc35f4
|
UTSW |
14 |
49,541,380 (GRCm39) |
intron |
probably benign |
|
|
R2047:Slc35f4
|
UTSW |
14 |
49,541,029 (GRCm39) |
intron |
probably benign |
|
|
R2239:Slc35f4
|
UTSW |
14 |
49,543,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2380:Slc35f4
|
UTSW |
14 |
49,543,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4273:Slc35f4
|
UTSW |
14 |
49,541,758 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4420:Slc35f4
|
UTSW |
14 |
49,551,034 (GRCm39) |
unclassified |
probably benign |
|
|
R4425:Slc35f4
|
UTSW |
14 |
49,556,307 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5261:Slc35f4
|
UTSW |
14 |
49,540,946 (GRCm39) |
intron |
probably benign |
|
|
R5398:Slc35f4
|
UTSW |
14 |
49,536,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Slc35f4
|
UTSW |
14 |
49,556,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Slc35f4
|
UTSW |
14 |
49,559,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6596:Slc35f4
|
UTSW |
14 |
49,763,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6729:Slc35f4
|
UTSW |
14 |
49,556,417 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6864:Slc35f4
|
UTSW |
14 |
49,556,310 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7427:Slc35f4
|
UTSW |
14 |
49,536,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7428:Slc35f4
|
UTSW |
14 |
49,536,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Slc35f4
|
UTSW |
14 |
49,541,732 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7596:Slc35f4
|
UTSW |
14 |
49,543,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Slc35f4
|
UTSW |
14 |
49,543,731 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8263:Slc35f4
|
UTSW |
14 |
49,551,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Slc35f4
|
UTSW |
14 |
49,541,681 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9198:Slc35f4
|
UTSW |
14 |
49,556,377 (GRCm39) |
missense |
unknown |
|
|
R9615:Slc35f4
|
UTSW |
14 |
49,556,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9751:Slc35f4
|
UTSW |
14 |
49,536,291 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9772:Slc35f4
|
UTSW |
14 |
49,551,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTTAGATGCCCAGCACACAAG -3'
(R):5'- AGGACATCACAAGGATACTGACCCTTC -3'
Sequencing Primer
(F):5'- AACACGCCTGCATTTTTCTAAG -3'
(R):5'- TTCATGGGGCTTACATGGGT -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation