Incidental Mutation 'IGL02803:Slc35f4'
| ID |
360298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35f4
|
| Ensembl Gene |
ENSMUSG00000021852 |
| Gene Name |
solute carrier family 35, member F4 |
| Synonyms |
4930550L21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL02803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
49535976-49763354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49541714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 347
(I347V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074368]
[ENSMUST00000138884]
|
| AlphaFold |
Q8BZK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074368
AA Change: I347V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: I347V
| 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
AA Change: I197V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: I197V
| 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: ENSMUST00000227634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228016
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
C |
T |
12: 37,302,480 (GRCm39) |
L106F |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,673,473 (GRCm39) |
I208T |
possibly damaging |
Het |
| Arap2 |
G |
T |
5: 62,906,452 (GRCm39) |
A189D |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,883,324 (GRCm39) |
K1402E |
possibly damaging |
Het |
| C7 |
A |
C |
15: 5,079,042 (GRCm39) |
F89V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,861 (GRCm39) |
T877I |
probably damaging |
Het |
| Cpt2 |
T |
C |
4: 107,764,583 (GRCm39) |
T394A |
probably benign |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,875,078 (GRCm39) |
T2528N |
probably damaging |
Het |
| Entpd8 |
G |
T |
2: 24,975,151 (GRCm39) |
W494L |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,163,135 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,444 (GRCm39) |
V779A |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,455,548 (GRCm39) |
S34P |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,364,528 (GRCm39) |
V297A |
probably benign |
Het |
| Gpr65 |
T |
C |
12: 98,241,469 (GRCm39) |
S41P |
probably damaging |
Het |
| Gps1 |
G |
T |
11: 120,677,649 (GRCm39) |
A221S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,448,867 (GRCm39) |
S1861T |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,902,711 (GRCm39) |
E184G |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,452,140 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
C |
T |
16: 13,221,020 (GRCm39) |
T743I |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,291 (GRCm39) |
S284G |
possibly damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,331,317 (GRCm39) |
A360S |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,987,533 (GRCm39) |
H298R |
probably benign |
Het |
| Or5an1 |
A |
T |
19: 12,261,347 (GRCm39) |
S312C |
possibly damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,321 (GRCm39) |
V91E |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,287 (GRCm39) |
D192G |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,170,006 (GRCm39) |
M158V |
probably benign |
Het |
| Patj |
C |
A |
4: 98,314,301 (GRCm39) |
Q374K |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,797 (GRCm39) |
G289W |
probably damaging |
Het |
| Phkg1 |
T |
G |
5: 129,894,895 (GRCm39) |
I219L |
possibly damaging |
Het |
| Ppp1r15b |
G |
A |
1: 133,061,081 (GRCm39) |
A533T |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,350,192 (GRCm39) |
I398V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,651,530 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,260,212 (GRCm39) |
L229F |
possibly damaging |
Het |
| Rps6ka1 |
T |
A |
4: 133,608,265 (GRCm39) |
Q24L |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,949,273 (GRCm39) |
I147T |
possibly damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,062,387 (GRCm39) |
I159N |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,572,526 (GRCm39) |
|
probably null |
Het |
| Spag17 |
A |
T |
3: 100,016,713 (GRCm39) |
M2163L |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,786,133 (GRCm39) |
|
probably benign |
Het |
| Sult2a8 |
G |
A |
7: 14,145,630 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,078,320 (GRCm39) |
L4718P |
probably damaging |
Het |
| Timd4 |
G |
T |
11: 46,706,521 (GRCm39) |
G108W |
probably damaging |
Het |
| Timm9 |
T |
C |
12: 71,173,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,275 (GRCm39) |
V258I |
probably benign |
Het |
| Zcchc9 |
C |
T |
13: 91,949,000 (GRCm39) |
V174I |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,342,236 (GRCm39) |
V205A |
possibly 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 |
|
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 |
|
R0764:Slc35f4
|
UTSW |
14 |
49,543,796 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation