Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Mfsd4b3-ps'

52148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd4b3-ps

Ensembl Gene

ENSMUSG00000071335

Gene Name

major facilitator superfamily domain containing 4B3, pseudogene

Synonyms

G630090E17Rik, Mfsd4b3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

39822919-39836086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39824068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 64 (M64T)

Ref Sequence

ENSEMBL: ENSMUSP00000093420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095749]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095749
AA Change: M64T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093420
Gene: ENSMUSG00000071335
AA Change: M64T

Domain	Start	End	E-Value	Type
transmembrane domain	2	21	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
transmembrane domain	173	195	N/A	INTRINSIC
transmembrane domain	236	258	N/A	INTRINSIC
transmembrane domain	265	287	N/A	INTRINSIC
transmembrane domain	297	319	N/A	INTRINSIC
transmembrane domain	326	348	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,583,375 (GRCm39)	R145H	possibly damaging	Het
Acox3	T	A	5: 35,746,096 (GRCm39)	V93E	probably benign	Het
Ankar	T	C	1: 72,704,378 (GRCm39)	N848S	probably benign	Het
Blzf1	A	G	1: 164,131,499 (GRCm39)		probably benign	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ceacam23	A	T	7: 17,636,396 (GRCm39)		noncoding transcript	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,191,631 (GRCm39)	D267A	probably damaging	Het
Dtl	G	T	1: 191,280,442 (GRCm39)	T364K	probably damaging	Het
Fat1	T	A	8: 45,477,877 (GRCm39)	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,454,890 (GRCm39)	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736 (GRCm38)	V1397I	probably benign	Het
Gdi2	A	G	13: 3,598,855 (GRCm39)		probably benign	Het
Grik3	C	T	4: 125,526,208 (GRCm39)	T147I	probably benign	Het
Htr1a	T	C	13: 105,581,792 (GRCm39)	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,839,068 (GRCm39)	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,282,293 (GRCm39)		probably null	Het
Nox3	T	A	17: 3,746,527 (GRCm39)		probably benign	Het
Or2ag12	C	T	7: 106,277,400 (GRCm39)	A98T	probably benign	Het
Pikfyve	T	A	1: 65,290,794 (GRCm39)	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,529,031 (GRCm39)	Q325*	probably null	Het
Rap1a	T	A	3: 105,639,351 (GRCm39)	T103S	probably benign	Het
Rfc4	G	A	16: 22,934,526 (GRCm39)	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,649,231 (GRCm39)	S8P	probably benign	Het
Syt17	C	T	7: 117,981,270 (GRCm39)	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,738,101 (GRCm39)	M1117L	probably benign	Het
Tent5a	A	G	9: 85,208,652 (GRCm39)	V57A	probably damaging	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,526,071 (GRCm39)		probably null	Het
Twf2	A	G	9: 106,090,027 (GRCm39)	I127V	probably benign	Het
Unc13c	A	G	9: 73,392,175 (GRCm39)	V2059A	probably damaging	Het

Other mutations in Mfsd4b3-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02903:Mfsd4b3-ps	APN	10	39,823,639 (GRCm39)	missense	possibly damaging	0.76
IGL02984:Mfsd4b3-ps	APN	10	39,823,184 (GRCm39)	utr 3 prime	probably benign
IGL03013:Mfsd4b3-ps	APN	10	39,823,891 (GRCm39)	missense	probably benign	0.00
R0322:Mfsd4b3-ps	UTSW	10	39,823,526 (GRCm39)	missense	probably damaging	0.99
R1238:Mfsd4b3-ps	UTSW	10	39,823,222 (GRCm39)	missense	probably damaging	0.97
R1750:Mfsd4b3-ps	UTSW	10	39,823,929 (GRCm39)	missense	probably benign
R2345:Mfsd4b3-ps	UTSW	10	39,824,069 (GRCm39)	missense	probably benign
R4027:Mfsd4b3-ps	UTSW	10	39,823,343 (GRCm39)	missense	probably benign
R4906:Mfsd4b3-ps	UTSW	10	39,824,056 (GRCm39)	missense	probably damaging	1.00
R4965:Mfsd4b3-ps	UTSW	10	39,823,686 (GRCm39)	nonsense	probably null
R6456:Mfsd4b3-ps	UTSW	10	39,823,316 (GRCm39)	missense	probably benign	0.00
R8955:Mfsd4b3-ps	UTSW	10	39,824,072 (GRCm39)	missense	probably benign	0.00
R9115:Mfsd4b3-ps	UTSW	10	39,824,012 (GRCm39)	nonsense	probably null
R9256:Mfsd4b3-ps	UTSW	10	39,824,010 (GRCm39)	missense	probably damaging	0.99
R9461:Mfsd4b3-ps	UTSW	10	39,823,247 (GRCm39)	missense	probably benign
X0026:Mfsd4b3-ps	UTSW	10	39,823,429 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21