Incidental Mutation 'R9772:Slc35f4'
| ID |
733494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f4
|
| Ensembl Gene |
ENSMUSG00000021852 |
| Gene Name |
solute carrier family 35, member F4 |
| Synonyms |
4930550L21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R9772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
49535976-49763354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49551175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 230
(Y230N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074368]
[ENSMUST00000123534]
[ENSMUST00000138884]
[ENSMUST00000146164]
|
| AlphaFold |
Q8BZK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074368
AA Change: Y230N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: Y230N
| 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 damaging
Transcript: ENSMUST00000123534
AA Change: Y230N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: Y230N
| 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 |
probably damaging
Transcript: ENSMUST00000138884
AA Change: Y80N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: Y80N
| 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 |
probably benign
Transcript: ENSMUST00000146164
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
T |
2: 26,985,666 (GRCm39) |
I517F |
probably benign |
Het |
| Ankdd1a |
A |
G |
9: 65,408,749 (GRCm39) |
C506R |
probably damaging |
Het |
| Arid3c |
T |
C |
4: 41,724,723 (GRCm39) |
N371D |
probably damaging |
Het |
| Ccdc117 |
C |
T |
11: 5,492,042 (GRCm39) |
R6Q |
possibly damaging |
Het |
| Ccdc78 |
C |
T |
17: 26,005,665 (GRCm39) |
R26* |
probably null |
Het |
| Clca4a |
C |
A |
3: 144,676,422 (GRCm39) |
W86L |
probably damaging |
Het |
| Clrn2 |
C |
T |
5: 45,611,369 (GRCm39) |
Q73* |
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,754,117 (GRCm39) |
D478G |
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,792,348 (GRCm39) |
I199L |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,786,522 (GRCm39) |
V90A |
probably benign |
Het |
| Dydc1 |
A |
G |
14: 40,804,248 (GRCm39) |
E90G |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,499,756 (GRCm39) |
S795T |
probably benign |
Het |
| Gm13090 |
G |
T |
4: 151,175,565 (GRCm39) |
A102S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,869,425 (GRCm39) |
S87P |
unknown |
Het |
| Mesp2 |
A |
G |
7: 79,461,348 (GRCm39) |
I224M |
possibly damaging |
Het |
| Mettl25 |
T |
C |
10: 105,633,127 (GRCm39) |
R439G |
probably benign |
Het |
| Mettl27 |
C |
T |
5: 134,962,390 (GRCm39) |
R63W |
possibly damaging |
Het |
| Nap1l1 |
C |
T |
10: 111,325,911 (GRCm39) |
R77* |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,795,868 (GRCm39) |
I48T |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,792,883 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
G |
11: 97,113,983 (GRCm39) |
I631T |
probably benign |
Het |
| Or4c105 |
G |
A |
2: 88,647,958 (GRCm39) |
V148I |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,964 (GRCm39) |
C241* |
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,093,138 (GRCm39) |
L210Q |
probably damaging |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,855 (GRCm39) |
I458F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,785 (GRCm39) |
E4347G |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,657,048 (GRCm39) |
I1911T |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,417 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sfr1 |
G |
T |
19: 47,722,019 (GRCm39) |
C145F |
probably benign |
Het |
| Slx4 |
A |
G |
16: 3,818,849 (GRCm39) |
V89A |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 56,990,765 (GRCm39) |
I671T |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,075 (GRCm39) |
V184I |
probably benign |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
C |
17: 78,932,398 (GRCm39) |
T502P |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,923 (GRCm39) |
G594R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTGGGGCAAGTTTTAG -3'
(R):5'- GCCTAACAATGGTCATGGCAAG -3'
Sequencing Primer
(F):5'- CTCCAGGAAACAGCAGTGCG -3'
(R):5'- TGGTCATGGCAAGTCAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation