Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02985:Mfsd13b'

406682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd13b

Ensembl Gene

ENSMUSG00000030877

Gene Name

major facilitator superfamily domain containing 13B

Synonyms

4933427G17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02985

Quality Score

Status

Chromosome

Chromosomal Location

120581732-120614010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120599395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 397 (I397K)

Ref Sequence

ENSEMBL: ENSMUSP00000150654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000216241]

AlphaFold

A0A1L1SUA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000033166
AA Change: I397K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: I397K

Domain	Start	End	E-Value	Type
Pfam:MFS_2	9	439	5.1e-18	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000133939
AA Change: I107K

SMART Domains

Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877
AA Change: I107K

Domain	Start	End	E-Value	Type
transmembrane domain	48	67	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000216241
AA Change: I397K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,878,641 (GRCm39)	E318G	probably damaging	Het
Birc6	T	C	17: 74,947,185 (GRCm39)	V2968A	probably benign	Het
Bltp1	T	C	3: 37,012,906 (GRCm39)	L1862S	probably damaging	Het
Cfap91	T	A	16: 38,118,634 (GRCm39)	I722F	probably damaging	Het
Csgalnact1	A	G	8: 68,913,695 (GRCm39)	V170A	probably benign	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dph1	A	G	11: 75,074,419 (GRCm39)	V131A	possibly damaging	Het
Galr1	A	T	18: 82,411,855 (GRCm39)	M337K	probably benign	Het
Gm14214	G	T	2: 154,611,374 (GRCm39)	T160N	probably benign	Het
Gpatch8	G	T	11: 102,372,336 (GRCm39)	H401N	unknown	Het
Higd1a	A	G	9: 121,681,596 (GRCm39)	F20L	probably benign	Het
Hmcn1	A	T	1: 150,547,668 (GRCm39)	I2761K	probably damaging	Het
Hspg2	T	A	4: 137,235,114 (GRCm39)	Y83N	probably damaging	Het
Ilvbl	C	T	10: 78,414,901 (GRCm39)	P255S	probably benign	Het
Kpna2	T	C	11: 106,880,163 (GRCm39)	Y495C	probably benign	Het
Krt36	G	T	11: 99,994,005 (GRCm39)	Q327K	probably benign	Het
Lrrc34	T	C	3: 30,690,444 (GRCm39)	M153V	probably benign	Het
Map9	A	T	3: 82,267,209 (GRCm39)	R30*	probably null	Het
Mcf2l	A	G	8: 13,013,239 (GRCm39)	Y48C	probably damaging	Het
Mpp7	C	A	18: 7,461,637 (GRCm39)		probably null	Het
Mrgprx2	C	T	7: 48,132,245 (GRCm39)	C191Y	probably damaging	Het
Or4c58	A	T	2: 89,674,684 (GRCm39)	I211N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,017 (GRCm39)	V209A	possibly damaging	Het
Pde7a	T	A	3: 19,365,047 (GRCm39)	H40L	probably damaging	Het
Phactr3	T	C	2: 177,817,250 (GRCm39)	V22A	probably benign	Het
Plcl2	G	T	17: 50,994,842 (GRCm39)	E1104*	probably null	Het
Ppp2cb	A	G	8: 34,105,474 (GRCm39)		probably benign	Het
Prl3c1	A	T	13: 27,383,370 (GRCm39)	Y12F	probably damaging	Het
Prune2	T	C	19: 16,993,723 (GRCm39)		probably null	Het
Rfesd	T	C	13: 76,156,331 (GRCm39)	D25G	probably damaging	Het
Rxfp1	C	A	3: 79,559,533 (GRCm39)	M429I	possibly damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Ube2d2b	T	C	5: 107,978,663 (GRCm39)	S105P	probably damaging	Het
Zfp518a	C	T	19: 40,902,111 (GRCm39)	T680I	possibly damaging	Het

Other mutations in Mfsd13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Mfsd13b	APN	7	120,598,132 (GRCm39)	missense	probably damaging	1.00
R1159:Mfsd13b	UTSW	7	120,613,766 (GRCm39)	missense	probably damaging	0.98
R2041:Mfsd13b	UTSW	7	120,591,139 (GRCm39)	splice site	probably benign
R2080:Mfsd13b	UTSW	7	120,591,047 (GRCm39)	missense	probably null
R4762:Mfsd13b	UTSW	7	120,590,549 (GRCm39)	missense	probably damaging	1.00
R4885:Mfsd13b	UTSW	7	120,590,711 (GRCm39)	missense	possibly damaging	0.80
R5082:Mfsd13b	UTSW	7	120,598,201 (GRCm39)	missense	possibly damaging	0.94
R5282:Mfsd13b	UTSW	7	120,591,056 (GRCm39)	missense	probably damaging	0.98
R5296:Mfsd13b	UTSW	7	120,590,961 (GRCm39)	missense	probably damaging	1.00
R5411:Mfsd13b	UTSW	7	120,599,346 (GRCm39)	missense	probably benign	0.03
R6563:Mfsd13b	UTSW	7	120,594,690 (GRCm39)	missense	probably damaging	0.99
R7347:Mfsd13b	UTSW	7	120,590,951 (GRCm39)	missense	probably benign	0.44
R8128:Mfsd13b	UTSW	7	120,590,495 (GRCm39)	missense	possibly damaging	0.79
R8520:Mfsd13b	UTSW	7	120,590,586 (GRCm39)	missense	probably benign
R9583:Mfsd13b	UTSW	7	120,598,134 (GRCm39)	missense	possibly damaging	0.56
Z1176:Mfsd13b	UTSW	7	120,590,900 (GRCm39)	missense	probably benign	0.10

Posted On

2016-08-02