Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Mfsd4a'

501924

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4a

Ensembl Gene

ENSMUSG00000059149

Gene Name

major facilitator superfamily domain containing 4A

Synonyms

A930031D07Rik, Mfsd4

MMRRC Submission

044088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5886 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131950544-131995800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131995465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 56 (V56I)

Ref Sequence

ENSEMBL: ENSMUSP00000125558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046658] [ENSMUST00000112365] [ENSMUST00000112370] [ENSMUST00000126927] [ENSMUST00000144548] [ENSMUST00000146267] [ENSMUST00000159038] [ENSMUST00000161864] [ENSMUST00000160656]

AlphaFold

Q6PDC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046658
AA Change: V56I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
transmembrane domain	81	99	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	218	240	N/A	INTRINSIC
transmembrane domain	245	267	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	309	331	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112365
AA Change: V56I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	430	1.3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112370
AA Change: V56I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	405	1.1e-11	PFAM
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126927
AA Change: V56I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	405	1.1e-11	PFAM
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000144548
AA Change: V56I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	396	4.2e-12	PFAM
transmembrane domain	398	420	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146267
AA Change: V56I

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159038
AA Change: V56I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	20	395	6.8e-12	PFAM
transmembrane domain	398	420	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161864
AA Change: V56I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: V56I

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
Pfam:MFS_1	218	420	1.1e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160656
AA Change: V34I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: V34I

Domain	Start	End	E-Value	Type
transmembrane domain	2	20	N/A	INTRINSIC
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	85	104	N/A	INTRINSIC
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
transmembrane domain	292	314	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC
transmembrane domain	354	376	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181695

Meta Mutation Damage Score

0.1819

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Adam26b	T	C	8: 43,973,310 (GRCm39)	E564G	possibly damaging	Het
Akap1	A	G	11: 88,725,486 (GRCm39)		probably null	Het
Akap5	T	A	12: 76,374,619 (GRCm39)	V10E	possibly damaging	Het
Atad2	A	T	15: 57,961,910 (GRCm39)	L887*	probably null	Het
Brd10	T	C	19: 29,696,677 (GRCm39)	I939V	probably benign	Het
C1qbp	A	G	11: 70,873,008 (GRCm39)	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,772,998 (GRCm39)	G92D	probably damaging	Het
Cacna1a	T	C	8: 85,249,651 (GRCm39)	I219T	probably damaging	Het
Capn12	A	G	7: 28,587,030 (GRCm39)	N333S	probably benign	Het
Ccdc154	C	T	17: 25,390,792 (GRCm39)	T644I	probably benign	Het
Cd200r1	T	C	16: 44,610,566 (GRCm39)	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,499,402 (GRCm39)		probably null	Het
Coq4	A	T	2: 29,680,626 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,324,834 (GRCm39)		probably benign	Het
Cyp4f17	A	T	17: 32,743,013 (GRCm39)	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,986,819 (GRCm39)	A200E	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,134,291 (GRCm39)	S276T	possibly damaging	Het
Efcab15	A	G	11: 103,098,947 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,582 (GRCm39)	I351M	probably benign	Het
Fat1	G	A	8: 45,480,718 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,486,432 (GRCm39)	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm973	T	A	1: 59,597,409 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,799,375 (GRCm39)	L124Q	probably damaging	Het
Hars2	T	A	18: 36,923,150 (GRCm39)		probably benign	Het
Hcrt	G	A	11: 100,652,759 (GRCm39)	A85V	probably damaging	Het
Hivep1	A	G	13: 42,310,088 (GRCm39)	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,796,691 (GRCm39)	S200T	probably damaging	Het
Krt40	C	T	11: 99,430,907 (GRCm39)	A201T	probably benign	Het
Lca5	G	A	9: 83,281,734 (GRCm39)	A350V	probably benign	Het
Lrig2	T	A	3: 104,370,014 (GRCm39)	M515L	probably benign	Het
Mbd5	A	G	2: 49,162,464 (GRCm39)	D90G	probably damaging	Het
Mpi	A	G	9: 57,455,745 (GRCm39)		probably benign	Het
Mroh4	G	T	15: 74,478,296 (GRCm39)	D935E	possibly damaging	Het
Mtg1	G	T	7: 139,729,778 (GRCm39)		probably null	Het
Nanos1	T	A	19: 60,745,268 (GRCm39)	C189S	probably damaging	Het
Naprt	A	C	15: 75,763,324 (GRCm39)		probably null	Het
Nubpl	T	A	12: 52,228,092 (GRCm39)		probably null	Het
Or10ad1b	T	C	15: 98,124,672 (GRCm39)	T285A	possibly damaging	Het
Or10d4	G	T	9: 39,581,252 (GRCm39)	V300L	probably benign	Het
Or8g23	T	A	9: 38,971,678 (GRCm39)	T95S	probably benign	Het
Or9g20	A	G	2: 85,630,147 (GRCm39)	S156P	probably damaging	Het
Otud4	T	A	8: 80,399,436 (GRCm39)	Y717N	probably damaging	Het
Pakap	T	A	4: 57,856,295 (GRCm39)	D582E	probably damaging	Het
Pnpla1	T	C	17: 29,095,837 (GRCm39)	F86S	possibly damaging	Het
Prlhr	C	T	19: 60,456,014 (GRCm39)	W184*	probably null	Het
Rtp3	A	G	9: 110,816,204 (GRCm39)	S116P	probably damaging	Het
Sema3c	T	C	5: 17,886,984 (GRCm39)	I345T	possibly damaging	Het
Skor2	T	C	18: 76,947,124 (GRCm39)	L282P	unknown	Het
Slc24a4	T	C	12: 102,226,674 (GRCm39)	V468A	probably damaging	Het
Slfn8	C	T	11: 82,894,160 (GRCm39)	M826I	probably benign	Het
Tacc2	A	G	7: 130,330,850 (GRCm39)	D378G	probably benign	Het
Thbs3	C	A	3: 89,127,470 (GRCm39)	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,707,948 (GRCm39)		probably benign	Het
Tm7sf2	A	G	19: 6,116,572 (GRCm39)		probably benign	Het
Trappc8	T	C	18: 21,007,737 (GRCm39)	Y126C	probably damaging	Het
Trim35	C	G	14: 66,541,502 (GRCm39)	L209V	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Trip12	C	T	1: 84,708,179 (GRCm39)		probably benign	Het
Trp53bp1	A	G	2: 121,035,502 (GRCm39)	V1583A	probably damaging	Het
Tuba5-ps	A	G	1: 134,447,937 (GRCm39)		noncoding transcript	Het
Tubgcp6	A	T	15: 88,987,450 (GRCm39)	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,611,910 (GRCm39)	D969N	probably benign	Het
Vldlr	C	A	19: 27,221,171 (GRCm39)	S612R	probably benign	Het
Vps13a	T	C	19: 16,641,926 (GRCm39)	T2234A	probably benign	Het
Vps39	A	G	2: 120,152,053 (GRCm39)		probably benign	Het
Zdhhc3	A	T	9: 122,920,146 (GRCm39)	C120S	probably benign	Het
Zfp37	A	G	4: 62,109,471 (GRCm39)	F531S	probably damaging	Het

Other mutations in Mfsd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Mfsd4a	APN	1	131,968,332 (GRCm39)	missense	probably benign	0.34
IGL01348:Mfsd4a	APN	1	131,995,564 (GRCm39)	missense	probably null	0.96
IGL01621:Mfsd4a	APN	1	131,981,881 (GRCm39)	missense	probably benign	0.16
IGL01934:Mfsd4a	APN	1	131,974,049 (GRCm39)	missense	probably damaging	1.00
IGL02429:Mfsd4a	APN	1	131,956,237 (GRCm39)	missense	probably benign
R0362:Mfsd4a	UTSW	1	131,987,013 (GRCm39)	missense	probably damaging	1.00
R0551:Mfsd4a	UTSW	1	131,969,657 (GRCm39)	missense	probably damaging	1.00
R1435:Mfsd4a	UTSW	1	131,995,494 (GRCm39)	missense	probably damaging	1.00
R1566:Mfsd4a	UTSW	1	131,986,917 (GRCm39)	missense	probably damaging	1.00
R1739:Mfsd4a	UTSW	1	131,995,621 (GRCm39)	missense	possibly damaging	0.85
R1793:Mfsd4a	UTSW	1	131,987,077 (GRCm39)	missense	probably damaging	0.98
R1799:Mfsd4a	UTSW	1	131,981,334 (GRCm39)	missense	possibly damaging	0.63
R2244:Mfsd4a	UTSW	1	131,956,243 (GRCm39)	missense	probably benign	0.09
R3870:Mfsd4a	UTSW	1	131,974,091 (GRCm39)	missense	probably damaging	0.99
R4177:Mfsd4a	UTSW	1	131,968,295 (GRCm39)	missense	probably damaging	0.99
R4330:Mfsd4a	UTSW	1	131,981,291 (GRCm39)	missense	possibly damaging	0.71
R4705:Mfsd4a	UTSW	1	131,981,309 (GRCm39)	missense	probably damaging	1.00
R4717:Mfsd4a	UTSW	1	131,985,633 (GRCm39)	missense	probably benign	0.00
R5890:Mfsd4a	UTSW	1	131,966,666 (GRCm39)	missense	probably damaging	1.00
R7092:Mfsd4a	UTSW	1	131,995,401 (GRCm39)	missense	probably benign	0.06
R7189:Mfsd4a	UTSW	1	131,980,131 (GRCm39)	missense	probably damaging	1.00
R8675:Mfsd4a	UTSW	1	131,986,926 (GRCm39)	missense	probably damaging	1.00
R9668:Mfsd4a	UTSW	1	131,969,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAGTTTTCCGGGAGAGC -3'
(R):5'- TGAATTAACCAACGTGGGGC -3'

Sequencing Primer
(F):5'- AGAGTTTTCCGGGAGAGCTTGTAG -3'
(R):5'- CCCCAGGAACGTGAAGC -3'

Posted On

2017-12-20