Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Mfsd4a'

92612

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd4a

Ensembl Gene

ENSMUSG00000059149

Gene Name

major facilitator superfamily domain containing 4A

Synonyms

Mfsd4, A930031D07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

132022806-132068062 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132054143 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 149 (S149P)

Ref Sequence

ENSEMBL: ENSMUSP00000125138 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046658

SMART Domains

Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149

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 benign
Transcript: ENSMUST00000112365
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: S255P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112370
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: S255P

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 benign
Transcript: ENSMUST00000126927
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: S255P

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 benign
Transcript: ENSMUST00000144548
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: S255P

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

probably benign
Transcript: ENSMUST00000146267

SMART Domains

Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159038
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: S255P

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: ENSMUST00000160656
AA Change: S149P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: S149P

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

probably benign
Transcript: ENSMUST00000161864
AA Change: S171P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: S171P

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

unknown
Transcript: ENSMUST00000162628
AA Change: S12P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181695

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Mfsd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Mfsd4a	APN	1	132040594	missense	probably benign	0.34
IGL01348:Mfsd4a	APN	1	132067826	missense	probably null	0.96
IGL01934:Mfsd4a	APN	1	132046311	missense	probably damaging	1.00
IGL02429:Mfsd4a	APN	1	132028499	missense	probably benign
R0362:Mfsd4a	UTSW	1	132059275	missense	probably damaging	1.00
R0551:Mfsd4a	UTSW	1	132041919	missense	probably damaging	1.00
R1435:Mfsd4a	UTSW	1	132067756	missense	probably damaging	1.00
R1566:Mfsd4a	UTSW	1	132059179	missense	probably damaging	1.00
R1739:Mfsd4a	UTSW	1	132067883	missense	possibly damaging	0.85
R1793:Mfsd4a	UTSW	1	132059339	missense	probably damaging	0.98
R1799:Mfsd4a	UTSW	1	132053596	missense	possibly damaging	0.63
R2244:Mfsd4a	UTSW	1	132028505	missense	probably benign	0.09
R3870:Mfsd4a	UTSW	1	132046353	missense	probably damaging	0.99
R4177:Mfsd4a	UTSW	1	132040557	missense	probably damaging	0.99
R4330:Mfsd4a	UTSW	1	132053553	missense	possibly damaging	0.71
R4705:Mfsd4a	UTSW	1	132053571	missense	probably damaging	1.00
R4717:Mfsd4a	UTSW	1	132057895	missense	probably benign	0.00
R5886:Mfsd4a	UTSW	1	132067727	missense	probably damaging	0.96
R5890:Mfsd4a	UTSW	1	132038928	missense	probably damaging	1.00
R7092:Mfsd4a	UTSW	1	132067663	missense	probably benign	0.06
R7189:Mfsd4a	UTSW	1	132052393	missense	probably damaging	1.00

Posted On

2013-12-09