Mutagenetix > Incidental Mutation

Incidental Mutation 'R1238:Mfsd4b3-ps'

152503

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b3-ps

Ensembl Gene

ENSMUSG00000071335

Gene Name

major facilitator superfamily domain containing 4B3, pseudogene

Synonyms

G630090E17Rik, Mfsd4b3

MMRRC Submission

039305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R1238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39822919-39836086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39823222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 346 (V346E)

Ref Sequence

ENSEMBL: ENSMUSP00000093420 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000095749
AA Change: V346E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093420
Gene: ENSMUSG00000071335
AA Change: V346E

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

Meta Mutation Damage Score

0.4650

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	A	14: 118,835,051 (GRCm39)		probably benign	Het
BC051665	T	A	13: 60,932,451 (GRCm39)	N78I	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cep290	A	C	10: 100,353,725 (GRCm39)	Q819H	probably damaging	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Cit	T	A	5: 115,989,280 (GRCm39)	F56I	probably benign	Het
Colec10	T	C	15: 54,325,835 (GRCm39)	F222L	possibly damaging	Het
Crocc	G	A	4: 140,762,675 (GRCm39)	A769V	probably benign	Het
Ctcf	T	C	8: 106,397,909 (GRCm39)		probably benign	Het
Ect2l	T	C	10: 18,018,852 (GRCm39)	R607G	possibly damaging	Het
Efcab6	T	G	15: 83,817,338 (GRCm39)	E745A	probably benign	Het
Eif1ad	T	G	19: 5,420,111 (GRCm39)	*171G	probably null	Het
Gvin-ps6	A	G	7: 106,022,264 (GRCm39)	V246A	probably damaging	Het
H2-D1	A	G	17: 35,482,908 (GRCm39)	D146G	probably damaging	Het
Iqub	C	T	6: 24,505,884 (GRCm39)	R8H	probably benign	Het
Itih4	A	T	14: 30,609,906 (GRCm39)	I79F	probably damaging	Het
Kdm5d	G	A	Y: 941,282 (GRCm39)	R1161H	probably damaging	Het
Map4	T	C	9: 109,897,648 (GRCm39)	S675P	probably benign	Het
Or1j21	A	T	2: 36,683,601 (GRCm39)	M118L	probably damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or7d11	T	A	9: 19,966,757 (GRCm39)	M1L	probably benign	Het
P2rx1	A	C	11: 72,903,784 (GRCm39)	K282T	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Ptprj	A	T	2: 90,274,758 (GRCm39)		probably null	Het
Pwp1	A	G	10: 85,721,726 (GRCm39)	I411V	probably benign	Het
Rnaset2b	T	C	17: 7,256,169 (GRCm39)	S12P	probably damaging	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Slc25a21	T	A	12: 56,785,272 (GRCm39)	I202F	probably benign	Het
Tcfl5	A	G	2: 180,264,440 (GRCm39)	V472A	probably benign	Het
Ttc12	A	T	9: 49,369,487 (GRCm39)		probably benign	Het
Ugt2b1	T	G	5: 87,073,988 (GRCm39)	I124L	probably benign	Het
Usp14	A	T	18: 9,997,763 (GRCm39)	N357K	probably benign	Het

Other mutations in Mfsd4b3-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Mfsd4b3-ps	APN	10	39,824,068 (GRCm39)	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- ACAATGTGCCTGAGAAGGTTGGTG -3'
(R):5'- ATGGAGCCTCAATGGCAACCAC -3'

Sequencing Primer
(F):5'- AGCATCTGATATAGACTGCTCTGC -3'
(R):5'- TCTTGGATTGAGCAATACACCAC -3'

Posted On

2014-01-29