Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03069:Mfsd4b4'

409802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd4b4

Ensembl Gene

ENSMUSG00000096687

Gene Name

major facilitator superfamily domain containing 4B4

Synonyms

AA474331

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL03069

Quality Score

Status

Chromosome

Chromosomal Location

39766009-39775202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39768311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 261 (C261G)

Ref Sequence

ENSEMBL: ENSMUSP00000137516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178045] [ENSMUST00000178563]

AlphaFold

J3QNS5

Predicted Effect

probably benign
Transcript: ENSMUST00000178045
AA Change: C307G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: C307G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	4	368	3e-14	PFAM
transmembrane domain	381	403	N/A	INTRINSIC
low complexity region	431	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178563
AA Change: C261G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: C261G

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	182	204	N/A	INTRINSIC
transmembrane domain	245	267	N/A	INTRINSIC
transmembrane domain	274	296	N/A	INTRINSIC
transmembrane domain	306	328	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC
low complexity region	385	403	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	G	8: 13,607,704 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,197,204 (GRCm39)	E145G	possibly damaging	Het
Ankrd28	T	A	14: 31,477,743 (GRCm39)	K42*	probably null	Het
Arsg	A	T	11: 109,454,082 (GRCm39)	K429N	probably damaging	Het
Bsn	G	A	9: 107,991,462 (GRCm39)	T1430I	probably damaging	Het
Calu	A	G	6: 29,356,582 (GRCm39)	D36G	possibly damaging	Het
Ccdc18	T	C	5: 108,376,767 (GRCm39)	S1403P	probably damaging	Het
Cdca2	A	G	14: 67,952,385 (GRCm39)		probably benign	Het
Cfh	C	A	1: 140,026,793 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dennd4c	C	A	4: 86,692,674 (GRCm39)	Y61*	probably null	Het
Diaph3	A	G	14: 87,009,555 (GRCm39)	S1075P	probably damaging	Het
Dpp7	T	A	2: 25,245,735 (GRCm39)		probably null	Het
Dtd1	T	A	2: 144,588,981 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,289,008 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,390,457 (GRCm39)	D344G	probably damaging	Het
Hsp90ab1	A	T	17: 45,879,954 (GRCm39)	C159S	possibly damaging	Het
Kcnip2	T	C	19: 45,784,710 (GRCm39)		probably benign	Het
Krba1	A	G	6: 48,391,483 (GRCm39)	T755A	possibly damaging	Het
L2hgdh	C	T	12: 69,739,173 (GRCm39)	V433I	probably benign	Het
Lamc1	A	T	1: 153,115,127 (GRCm39)	L1050I	probably damaging	Het
Lgals4	A	T	7: 28,540,343 (GRCm39)	I213L	probably benign	Het
Lysmd1	A	G	3: 95,044,945 (GRCm39)	I64V	probably damaging	Het
Mrgprb3	T	A	7: 48,293,198 (GRCm39)	I118F	possibly damaging	Het
Mtmr2	T	A	9: 13,704,501 (GRCm39)	Y137*	probably null	Het
Ofcc1	A	T	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Omd	A	T	13: 49,745,870 (GRCm39)		probably benign	Het
Or5d46	C	T	2: 88,170,643 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,728 (GRCm39)	M1K	probably null	Het
Polr3a	T	A	14: 24,511,808 (GRCm39)	D916V	probably damaging	Het
Prpf38a	T	C	4: 108,432,628 (GRCm39)	Y117C	probably damaging	Het
Scn11a	C	T	9: 119,619,029 (GRCm39)	G771D	probably benign	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Snx1	T	A	9: 66,001,906 (GRCm39)	I306F	probably benign	Het
Snx31	T	A	15: 36,525,749 (GRCm39)	R317*	probably null	Het
Sorl1	T	C	9: 41,902,722 (GRCm39)	T1612A	probably benign	Het
Spag1	G	T	15: 36,224,245 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,538,914 (GRCm39)	F162S	probably damaging	Het
Tkfc	T	A	19: 10,576,518 (GRCm39)	M122L	probably benign	Het
Tnni3k	T	A	3: 154,647,242 (GRCm39)		probably null	Het
Trim56	T	C	5: 137,142,616 (GRCm39)	Q300R	probably damaging	Het
Ttc24	T	A	3: 87,977,408 (GRCm39)	T113S	probably benign	Het
Xirp2	A	T	2: 67,339,876 (GRCm39)	T706S	possibly damaging	Het
Yipf5	T	A	18: 40,339,290 (GRCm39)		probably benign	Het
Zfp202	T	C	9: 40,122,695 (GRCm39)	S486P	probably damaging	Het
Zfp407	A	G	18: 84,369,100 (GRCm39)	S1676P	probably damaging	Het
Znrd2	G	T	19: 5,780,450 (GRCm39)	L183I	possibly damaging	Het

Other mutations in Mfsd4b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01957:Mfsd4b4	APN	10	39,768,025 (GRCm39)	missense	probably damaging	0.99
R0057:Mfsd4b4	UTSW	10	39,891,097 (GRCm38)	utr 3 prime	probably benign
R0771:Mfsd4b4	UTSW	10	39,768,407 (GRCm39)	missense	probably benign	0.01
R1411:Mfsd4b4	UTSW	10	39,768,136 (GRCm39)	missense	probably damaging	1.00
R1472:Mfsd4b4	UTSW	10	39,767,860 (GRCm39)	missense	probably benign	0.44
R1927:Mfsd4b4	UTSW	10	39,768,437 (GRCm39)	missense	probably damaging	1.00
R2194:Mfsd4b4	UTSW	10	39,768,919 (GRCm39)	missense	probably damaging	0.99
R3748:Mfsd4b4	UTSW	10	39,770,132 (GRCm39)	splice site	probably benign
R5172:Mfsd4b4	UTSW	10	39,770,083 (GRCm39)	missense	probably damaging	1.00
R5281:Mfsd4b4	UTSW	10	39,768,467 (GRCm39)	missense	probably benign	0.02
R5771:Mfsd4b4	UTSW	10	39,768,635 (GRCm39)	missense	probably benign	0.01
R5975:Mfsd4b4	UTSW	10	39,768,466 (GRCm39)	missense	probably benign	0.21
R6066:Mfsd4b4	UTSW	10	39,768,049 (GRCm39)	missense	probably benign	0.02
R6954:Mfsd4b4	UTSW	10	39,767,948 (GRCm39)	missense	probably benign	0.05
R7042:Mfsd4b4	UTSW	10	39,768,514 (GRCm39)	missense	probably damaging	1.00
R7774:Mfsd4b4	UTSW	10	39,768,407 (GRCm39)	missense	probably benign	0.01
R8271:Mfsd4b4	UTSW	10	39,768,101 (GRCm39)	missense	probably benign
Z1176:Mfsd4b4	UTSW	10	39,768,595 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02