Mutagenetix > Incidental Mutation

Incidental Mutation 'R5172:Mfsd4b4'

398831

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b4

Ensembl Gene

ENSMUSG00000096687

Gene Name

major facilitator superfamily domain containing 4B4

Synonyms

AA474331

MMRRC Submission

042752-MU

Accession Numbers

Essential gene?

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

Stock #

R5172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39766009-39775202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39770083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 78 (F78S)

Ref Sequence

ENSEMBL: ENSMUSP00000136934 (fasta)

Gene Model

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

AlphaFold

J3QNS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000178045
AA Change: F78S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: F78S

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 damaging
Transcript: ENSMUST00000178563
AA Change: F32S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: F32S

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,266,434 (GRCm39)	Y52C	probably damaging	Het
Acmsd	C	T	1: 127,681,585 (GRCm39)	R183*	probably null	Het
Anxa2	T	A	9: 69,392,533 (GRCm39)	D127E	probably damaging	Het
Atrnl1	T	A	19: 57,673,945 (GRCm39)	Y593*	probably null	Het
Atxn2	C	T	5: 121,933,098 (GRCm39)		probably null	Het
Ccl6	A	T	11: 83,480,169 (GRCm39)	Y66N	probably damaging	Het
Ccng1	A	G	11: 40,642,113 (GRCm39)	V223A	probably benign	Het
Cfap44	T	C	16: 44,269,556 (GRCm39)	Y1187H	probably benign	Het
Cfc1	A	T	1: 34,575,011 (GRCm39)	I10F	probably benign	Het
Chrne	T	A	11: 70,506,352 (GRCm39)	T365S	probably benign	Het
Clec4b1	G	T	6: 123,048,414 (GRCm39)	R183L	probably benign	Het
Csmd2	A	C	4: 128,371,190 (GRCm39)	Q1926P	probably benign	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dzip1	T	A	14: 119,124,563 (GRCm39)	Q570L	probably damaging	Het
Fam149a	T	A	8: 45,797,690 (GRCm39)	Q507L	probably damaging	Het
Frem3	T	C	8: 81,339,195 (GRCm39)	V496A	probably benign	Het
Fryl	A	T	5: 73,259,016 (GRCm39)	D589E	possibly damaging	Het
Hemk1	T	C	9: 107,206,631 (GRCm39)	E4G	possibly damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnh7	T	C	2: 62,569,508 (GRCm39)	D796G	possibly damaging	Het
Lemd2	G	T	17: 27,414,356 (GRCm39)	S326*	probably null	Het
Mdc1	T	C	17: 36,163,982 (GRCm39)	S1177P	probably benign	Het
Mmgt2	T	A	11: 62,555,954 (GRCm39)	F101I	possibly damaging	Het
Myo18a	T	C	11: 77,714,924 (GRCm39)	L785P	probably damaging	Het
Nup155	C	A	15: 8,139,026 (GRCm39)	Q33K	probably benign	Het
Or52r1c	T	C	7: 102,734,884 (GRCm39)	L48P	probably damaging	Het
Or5w19	A	G	2: 87,699,171 (GRCm39)	T279A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank1	A	T	19: 34,818,202 (GRCm39)	C112*	probably null	Het
Pcmtd1	T	A	1: 7,233,485 (GRCm39)	M23K	probably benign	Het
Rere	A	T	4: 150,654,726 (GRCm39)	R419S	unknown	Het
Rpf1	T	C	3: 146,218,050 (GRCm39)	R155G	possibly damaging	Het
Sema7a	A	G	9: 57,864,961 (GRCm39)	T421A	probably benign	Het
Sharpin	A	G	15: 76,231,741 (GRCm39)	S323P	probably benign	Het
Slamf6	A	G	1: 171,764,147 (GRCm39)	E180G	probably benign	Het
Snd1	T	G	6: 28,886,615 (GRCm39)	V874G	possibly damaging	Het
Sult6b2	A	T	6: 142,743,657 (GRCm39)	V123D	probably damaging	Het
Tpk1	A	T	6: 43,536,951 (GRCm39)		probably null	Het
Vmn1r160	A	T	7: 22,570,761 (GRCm39)	N38I	probably damaging	Het
Wdr93	T	A	7: 79,402,241 (GRCm39)	I180N	probably damaging	Het
Ythdf3	C	T	3: 16,258,198 (GRCm39)	T119I	probably damaging	Het
Zc3h18	T	G	8: 123,134,159 (GRCm39)		probably benign	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
IGL03069:Mfsd4b4	APN	10	39,768,311 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGTCTGATGTTCCTGTGATAG -3'
(R):5'- TCCTGACCCTGGAAAAGAGG -3'

Sequencing Primer
(F):5'- ATAGTGTGATGTCATCAGCTGTCC -3'
(R):5'- GGCATGCCATTTTCAATAAATTGGG -3'

Posted On

2016-07-06