Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Mfsd4b4'

598777

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b4

Ensembl Gene

ENSMUSG00000096687

Gene Name

major facilitator superfamily domain containing 4B4

Synonyms

AA474331

MMRRC Submission

045830-MU

Accession Numbers

Essential gene?

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

Stock #

R7774 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39766009-39775202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39768407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 275 (T275A)

Ref Sequence

ENSEMBL: ENSMUSP00000136934 (fasta)

Gene Model

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

AlphaFold

J3QNS5

Predicted Effect

probably benign
Transcript: ENSMUST00000178045
AA Change: T275A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: T275A

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: T229A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: T229A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,494,414 (GRCm39)	T809N	probably benign	Het
Adgb	C	A	10: 10,215,404 (GRCm39)	E1561*	probably null	Het
Adgra1	A	T	7: 139,427,628 (GRCm39)	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,688,103 (GRCm39)	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,754,161 (GRCm39)	K177E	unknown	Het
Ccdc122	T	C	14: 77,305,379 (GRCm39)	V11A	probably benign	Het
Clasp2	T	A	9: 113,677,804 (GRCm39)		probably null	Het
Col6a1	T	C	10: 76,545,710 (GRCm39)	T921A	unknown	Het
Cul3	A	C	1: 80,247,011 (GRCm39)	D697E	probably benign	Het
Defa34	G	A	8: 22,155,978 (GRCm39)	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,700,641 (GRCm39)	R63G	probably damaging	Het
Dnaaf11	T	G	15: 66,321,401 (GRCm39)	I247L	probably benign	Het
Dnah3	T	A	7: 119,550,975 (GRCm39)	K136*	probably null	Het
Exoc7	T	C	11: 116,186,142 (GRCm39)	D353G	possibly damaging	Het
Fbxw21	T	C	9: 108,972,908 (GRCm39)	Y342C	probably benign	Het
Fitm2	T	A	2: 163,311,986 (GRCm39)	I76F	probably damaging	Het
Fryl	A	T	5: 73,240,727 (GRCm39)	I1291N	probably benign	Het
Fzd2	A	T	11: 102,496,314 (GRCm39)	I253F	possibly damaging	Het
Gm5592	A	T	7: 40,939,283 (GRCm39)	Y855F	probably damaging	Het
H1f6	A	G	13: 23,880,183 (GRCm39)	K112R	possibly damaging	Het
H4c16	G	T	6: 136,781,281 (GRCm39)	P33T	possibly damaging	Het
Helz2	T	C	2: 180,875,784 (GRCm39)	Y1570C	probably benign	Het
Ints11	A	G	4: 155,970,140 (GRCm39)	T228A	probably benign	Het
Ipo13	G	T	4: 117,771,494 (GRCm39)	N25K	probably benign	Het
Itga9	T	A	9: 118,700,968 (GRCm39)	I917N	probably damaging	Het
Krt39	T	C	11: 99,405,437 (GRCm39)		probably null	Het
Krtap13-1	C	T	16: 88,526,061 (GRCm39)	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,368,863 (GRCm39)	E107*	probably null	Het
Ly6a	A	T	15: 74,869,416 (GRCm39)	I13N	probably damaging	Het
Mgat3	C	T	15: 80,095,743 (GRCm39)	T190M	probably damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mucl1	G	T	15: 103,783,950 (GRCm39)	N85K	possibly damaging	Het
Nifk	G	A	1: 118,255,391 (GRCm39)	E96K	possibly damaging	Het
Opn3	C	T	1: 175,490,471 (GRCm39)	V397M	probably damaging	Het
Or52ad1	T	C	7: 102,995,737 (GRCm39)	R133G	possibly damaging	Het
Or5ae1	T	A	7: 84,565,739 (GRCm39)	F251I	probably damaging	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Pcdha2	A	G	18: 37,074,579 (GRCm39)	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757 (GRCm39)	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,404,303 (GRCm39)	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,360,802 (GRCm39)	C195*	probably null	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pramel23	C	T	4: 143,423,676 (GRCm39)	S371N	possibly damaging	Het
Ptprq	T	C	10: 107,479,530 (GRCm39)	T1166A	probably damaging	Het
Ran	G	A	5: 129,099,874 (GRCm39)	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,318,309 (GRCm39)	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,430,101 (GRCm39)	E227D	probably benign	Het
Sec24b	C	A	3: 129,777,846 (GRCm39)	R1204L	possibly damaging	Het
Shroom3	T	C	5: 93,098,348 (GRCm39)	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,084,814 (GRCm39)	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,092,142 (GRCm39)	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,440,847 (GRCm39)	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,899,606 (GRCm39)	D658G	probably benign	Het
Tlr6	T	G	5: 65,110,728 (GRCm39)	E726D	probably damaging	Het
Tmem218	T	A	9: 37,133,864 (GRCm39)	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,098,795 (GRCm39)	Q82*	probably null	Het
Trpm7	A	G	2: 126,655,158 (GRCm39)	V1260A	probably benign	Het
Trpm8	A	T	1: 88,258,563 (GRCm39)	E282V	probably damaging	Het
Tuba8	T	C	6: 121,200,348 (GRCm39)	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,245,245 (GRCm39)		probably null	Het
Zfp174	G	A	16: 3,667,215 (GRCm39)	V135M	probably damaging	Het
Zfp418	G	A	7: 7,185,776 (GRCm39)	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,844,474 (GRCm39)	E44D	probably benign	Het
Zfp521	T	C	18: 13,978,838 (GRCm39)	D525G	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
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
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'- AGATTTCCCAGTTAAGGTGGTG -3'
(R):5'- GAGCTCGAAGGGCTAAATATCAC -3'

Sequencing Primer
(F):5'- TTGCTCAATCCAGGAGATGC -3'
(R):5'- GGGCTAAATATCACAGGGCCCTC -3'

Posted On

2019-11-26