Incidental Mutation 'R4425:Slc35f4'
| ID |
328125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f4
|
| Ensembl Gene |
ENSMUSG00000021852 |
| Gene Name |
solute carrier family 35, member F4 |
| Synonyms |
4930550L21Rik |
| MMRRC Submission |
041144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49535976-49763354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49556307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 149
(V149I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074368]
[ENSMUST00000123534]
[ENSMUST00000138884]
[ENSMUST00000146164]
|
| AlphaFold |
Q8BZK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074368
AA Change: V149I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: V149I
| 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 |
probably benign
Transcript: ENSMUST00000123534
AA Change: V149I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: V149I
| 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 |
|
transmembrane domain
|
217 |
234 |
N/A |
INTRINSIC |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000146164
AA Change: V149I
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1155 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,236,870 (GRCm39) |
T1456A |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,950,844 (GRCm39) |
F56S |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
| Amh |
A |
G |
10: 80,642,755 (GRCm39) |
D313G |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,994,052 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
A |
G |
18: 38,111,653 (GRCm39) |
L1115P |
probably damaging |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cd163 |
T |
C |
6: 124,304,862 (GRCm39) |
S1080P |
possibly damaging |
Het |
| Ceacam10 |
A |
T |
7: 24,480,433 (GRCm39) |
Y68F |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,028,613 (GRCm39) |
Y688* |
probably null |
Het |
| Chrnb1 |
A |
T |
11: 69,677,773 (GRCm39) |
S326R |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,026,344 (GRCm39) |
V25M |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,136 (GRCm39) |
N160Y |
possibly damaging |
Het |
| Dalrd3 |
T |
C |
9: 108,448,800 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,648 (GRCm39) |
S253I |
possibly damaging |
Het |
| Efl1 |
G |
A |
7: 82,412,491 (GRCm39) |
C960Y |
probably damaging |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Epb41l2 |
C |
A |
10: 25,382,078 (GRCm39) |
D701E |
possibly damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,422,699 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,606 (GRCm39) |
I21F |
probably damaging |
Het |
| Il10rb |
C |
A |
16: 91,204,603 (GRCm39) |
N51K |
possibly damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,849,273 (GRCm39) |
S998P |
probably benign |
Het |
| Lrrc8c |
T |
A |
5: 105,755,755 (GRCm39) |
M510K |
probably benign |
Het |
| Nfrkb |
G |
T |
9: 31,311,258 (GRCm39) |
C369F |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,630,719 (GRCm39) |
E19G |
possibly damaging |
Het |
| Or10a5 |
A |
C |
7: 106,635,698 (GRCm39) |
E112A |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,534 (GRCm39) |
H89R |
probably benign |
Het |
| Ovol3 |
A |
T |
7: 29,934,789 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,301,320 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,398 (GRCm39) |
V505A |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,042,727 (GRCm39) |
N570S |
probably benign |
Het |
| Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tagap1 |
G |
A |
17: 7,223,511 (GRCm39) |
S395L |
probably benign |
Het |
| Tcstv2b |
C |
A |
13: 120,373,908 (GRCm39) |
L127F |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,751,904 (GRCm39) |
T1014A |
probably damaging |
Het |
| Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,154,015 (GRCm39) |
Y230C |
probably damaging |
Het |
| Trav12-2 |
A |
G |
14: 53,854,332 (GRCm39) |
Q102R |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,733,430 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
T |
7: 23,754,973 (GRCm39) |
I259F |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,861 (GRCm39) |
E219G |
probably damaging |
Het |
| Vsig8 |
G |
T |
1: 172,390,714 (GRCm39) |
G254V |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,320,246 (GRCm39) |
I1086V |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,509,601 (GRCm39) |
H123Y |
probably damaging |
Het |
| Zfp811 |
A |
T |
17: 33,016,521 (GRCm39) |
C506* |
probably null |
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 |
|
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 |
|
|
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'- TGACCTGAGGTAAGGGACAC -3'
(R):5'- GCTGACACATCTGACTGCTC -3'
Sequencing Primer
(F):5'- TAAGGGGGCTCATCCTGCTTC -3'
(R):5'- GACACATCTGACTGCTCCTCCAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation