Incidental Mutation 'R5601:Slc27a4'
| ID |
439012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc27a4
|
| Ensembl Gene |
ENSMUSG00000059316 |
| Gene Name |
solute carrier family 27 (fatty acid transporter), member 4 |
| Synonyms |
fatty acid transport protein 4, FATP4 |
| MMRRC Submission |
043153-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5601 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29692646-29707534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29695672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 69
(Y69F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080065]
|
| AlphaFold |
Q91VE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080065
AA Change: Y69F
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: Y69F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
80 |
512 |
1.2e-72 |
PFAM |
|
Pfam:AMP-binding_C
|
520 |
595 |
2.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136444
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutant mice are not viable. While mice of one mutant line die during early development, mice of other mutant lines die at birth exhibiting abnormal skin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
G |
A |
13: 91,931,029 (GRCm39) |
V426I |
probably benign |
Het |
| Asmt |
T |
C |
X: 169,110,127 (GRCm39) |
V212A |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,720,191 (GRCm39) |
|
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,662 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
C |
T |
9: 39,502,563 (GRCm39) |
V672M |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,103,468 (GRCm39) |
A392D |
probably damaging |
Het |
| Ccdc13 |
G |
A |
9: 121,629,638 (GRCm39) |
Q114* |
probably null |
Het |
| Ces2e |
A |
T |
8: 105,656,126 (GRCm39) |
I146F |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,280,549 (GRCm39) |
K1443E |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,211,246 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Cpsf2 |
G |
T |
12: 101,951,614 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
A |
G |
5: 73,575,283 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dram1 |
A |
G |
10: 88,160,629 (GRCm39) |
S231P |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,883,515 (GRCm39) |
D482G |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,161 (GRCm39) |
I177T |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,299 (GRCm39) |
T172A |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,786 (GRCm39) |
V207M |
probably damaging |
Het |
| Hccs |
G |
A |
X: 168,096,597 (GRCm39) |
R203C |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,270,694 (GRCm39) |
F877I |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,292,379 (GRCm39) |
V272A |
unknown |
Het |
| Impact |
C |
T |
18: 13,109,064 (GRCm39) |
T65I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,166,863 (GRCm39) |
S309P |
probably damaging |
Het |
| Myf6 |
A |
C |
10: 107,330,475 (GRCm39) |
S31A |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,318 (GRCm39) |
W149C |
probably damaging |
Het |
| Or8b35 |
C |
G |
9: 37,904,010 (GRCm39) |
T74R |
possibly damaging |
Het |
| P4hb |
T |
A |
11: 120,462,441 (GRCm39) |
E88D |
possibly damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,259 (GRCm39) |
C418R |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,817 (GRCm39) |
D267G |
probably damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prss58 |
A |
T |
6: 40,874,783 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ptprq |
C |
T |
10: 107,444,291 (GRCm39) |
A1438T |
probably benign |
Het |
| Rfx4 |
A |
T |
10: 84,634,442 (GRCm39) |
T61S |
probably damaging |
Het |
| Sclt1 |
T |
A |
3: 41,685,354 (GRCm39) |
N35Y |
probably benign |
Het |
| Sec24b |
CTG |
CTGGTG |
3: 129,834,483 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,881,427 (GRCm39) |
I188T |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,340,319 (GRCm39) |
V247A |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,643,772 (GRCm39) |
T854I |
probably benign |
Het |
| Stat5b |
G |
A |
11: 100,674,001 (GRCm39) |
T761M |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,842,717 (GRCm39) |
L563P |
probably damaging |
Het |
| Tbc1d23 |
C |
A |
16: 57,018,672 (GRCm39) |
C283F |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,564,462 (GRCm39) |
N900S |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,927 (GRCm39) |
T370A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,311,604 (GRCm39) |
V1868A |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,857,833 (GRCm39) |
W1145R |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,025 (GRCm39) |
L675V |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,508,637 (GRCm39) |
E444G |
probably damaging |
Het |
|
| Other mutations in Slc27a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01132:Slc27a4
|
APN |
2 |
29,694,314 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01982:Slc27a4
|
APN |
2 |
29,702,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Slc27a4
|
APN |
2 |
29,695,974 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02290:Slc27a4
|
APN |
2 |
29,705,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02382:Slc27a4
|
APN |
2 |
29,699,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Slc27a4
|
APN |
2 |
29,701,238 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0470:Slc27a4
|
UTSW |
2 |
29,694,197 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0688:Slc27a4
|
UTSW |
2 |
29,702,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0847:Slc27a4
|
UTSW |
2 |
29,701,261 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1466:Slc27a4
|
UTSW |
2 |
29,701,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Slc27a4
|
UTSW |
2 |
29,701,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1584:Slc27a4
|
UTSW |
2 |
29,701,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1793:Slc27a4
|
UTSW |
2 |
29,695,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1804:Slc27a4
|
UTSW |
2 |
29,701,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2056:Slc27a4
|
UTSW |
2 |
29,700,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4901:Slc27a4
|
UTSW |
2 |
29,702,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Slc27a4
|
UTSW |
2 |
29,702,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Slc27a4
|
UTSW |
2 |
29,701,672 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6196:Slc27a4
|
UTSW |
2 |
29,695,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6643:Slc27a4
|
UTSW |
2 |
29,702,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7033:Slc27a4
|
UTSW |
2 |
29,694,283 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7176:Slc27a4
|
UTSW |
2 |
29,701,238 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7179:Slc27a4
|
UTSW |
2 |
29,705,664 (GRCm39) |
nonsense |
probably null |
|
|
R7192:Slc27a4
|
UTSW |
2 |
29,695,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Slc27a4
|
UTSW |
2 |
29,702,944 (GRCm39) |
missense |
probably null |
0.99 |
|
R7500:Slc27a4
|
UTSW |
2 |
29,702,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7810:Slc27a4
|
UTSW |
2 |
29,695,722 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8042:Slc27a4
|
UTSW |
2 |
29,701,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9155:Slc27a4
|
UTSW |
2 |
29,701,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9505:Slc27a4
|
UTSW |
2 |
29,701,608 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9658:Slc27a4
|
UTSW |
2 |
29,701,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCTAGCAGAACAGCAGAC -3'
(R):5'- CCATAAAGAGGGCAACTACATTG -3'
Sequencing Primer
(F):5'- GCAGGTCTCTTGAGTTTGAAGACAAC -3'
(R):5'- TCTGTGCCCTCGAAAATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation