Mutagenetix > Incidental Mutation

Incidental Mutation 'R7042:Mfsd4b4'

547118

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b4

Ensembl Gene

ENSMUSG00000096687

Gene Name

major facilitator superfamily domain containing 4B4

Synonyms

AA474331

MMRRC Submission

045141-MU

Accession Numbers

Essential gene?

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

Stock #

R7042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39766009-39775202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39768514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 193 (Y193F)

Ref Sequence

ENSEMBL: ENSMUSP00000137516 (fasta)

Gene Model

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

AlphaFold

J3QNS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000178045
AA Change: Y239F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: Y239F

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: Y193F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: Y193F

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,098 (GRCm39)	S554G	possibly damaging	Het
Adcy7	G	T	8: 89,042,378 (GRCm39)	R415L	probably damaging	Het
Aox1	A	T	1: 58,141,759 (GRCm39)	I1182F	probably damaging	Het
Ccdc7b	T	A	8: 129,811,730 (GRCm39)	Y147N	probably benign	Het
Clcnka	A	G	4: 141,118,691 (GRCm39)	I398T	probably damaging	Het
Cst8	T	A	2: 148,641,796 (GRCm39)		probably null	Het
Dcxr	T	C	11: 120,617,841 (GRCm39)	D45G	possibly damaging	Het
Dhx38	A	T	8: 110,283,617 (GRCm39)	M510K	possibly damaging	Het
Dync2i1	T	C	12: 116,218,061 (GRCm39)	I182M	probably benign	Het
Ebf1	T	A	11: 44,882,338 (GRCm39)	H431Q	probably damaging	Het
Eml4	T	C	17: 83,768,999 (GRCm39)	I681T	probably damaging	Het
Etf1	T	C	18: 35,043,219 (GRCm39)	N164S	probably benign	Het
Fmo2	A	G	1: 162,708,226 (GRCm39)	V303A	probably damaging	Het
Foxl2	T	A	9: 98,837,715 (GRCm39)	M1K	probably null	Het
Gm3404	A	T	5: 146,462,969 (GRCm39)	E50D	probably benign	Het
Gpr61	G	A	3: 108,058,647 (GRCm39)	P5S	possibly damaging	Het
Hcrtr1	A	G	4: 130,024,653 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,017,828 (GRCm39)	F3I	possibly damaging	Het
Ifi206	G	A	1: 173,308,808 (GRCm39)	P396L		Het
Ifi209	G	A	1: 173,470,236 (GRCm39)	V275I	probably benign	Het
Ighv1-69	T	C	12: 115,586,909 (GRCm39)	S75G	probably benign	Het
Kcnj3	A	T	2: 55,484,877 (GRCm39)	H325L	possibly damaging	Het
Klrk1	A	T	6: 129,593,734 (GRCm39)	S50T	possibly damaging	Het
Nlrp5	A	G	7: 23,116,905 (GRCm39)	I210V	possibly damaging	Het
Or4p20	T	A	2: 88,253,746 (GRCm39)	I208F	possibly damaging	Het
Or5w12	A	T	2: 87,501,935 (GRCm39)	Y259N	possibly damaging	Het
Or8b3	G	T	9: 38,314,196 (GRCm39)	G6C	probably damaging	Het
Or8d23	A	G	9: 38,841,622 (GRCm39)	S52G	possibly damaging	Het
Pax6	A	T	2: 105,526,718 (GRCm39)	H208L	probably benign	Het
Pgc	C	A	17: 48,044,745 (GRCm39)	Q331K	probably benign	Het
Phldb1	A	G	9: 44,605,721 (GRCm39)	S370P	probably damaging	Het
Pi4k2a	T	C	19: 42,093,337 (GRCm39)	I226T	probably benign	Het
Pick1	T	C	15: 79,132,965 (GRCm39)	S342P	probably damaging	Het
Plscr1	A	G	9: 92,153,588 (GRCm39)	M312V	probably damaging	Het
Ppp3cc	T	G	14: 70,462,468 (GRCm39)	K399Q	probably benign	Het
Qpctl	T	C	7: 18,880,943 (GRCm39)	H163R	probably benign	Het
Rab11fip5	A	G	6: 85,351,110 (GRCm39)	V134A	possibly damaging	Het
Rasal1	T	A	5: 120,802,025 (GRCm39)		probably null	Het
Rem2	T	A	14: 54,715,548 (GRCm39)	I171N	probably damaging	Het
Sec22a	T	A	16: 35,149,885 (GRCm39)	I214L	probably benign	Het
Setbp1	T	C	18: 79,130,070 (GRCm39)	D54G	probably damaging	Het
Slc27a2	C	T	2: 126,409,700 (GRCm39)	A294V	probably damaging	Het
Slfn14	T	A	11: 83,167,430 (GRCm39)	D695V	probably damaging	Het
Smc6	T	A	12: 11,359,301 (GRCm39)	I975K	probably damaging	Het
Spice1	T	C	16: 44,206,043 (GRCm39)	F835L	probably benign	Het
Tars2	A	T	3: 95,658,057 (GRCm39)	H222Q	probably benign	Het
Tmtc2	A	T	10: 105,206,477 (GRCm39)	F273I	probably damaging	Het
Ttc39d	C	A	17: 80,523,891 (GRCm39)	D183E	probably benign	Het
Vasp	A	G	7: 18,995,946 (GRCm39)	S128P	probably benign	Het
Vcpip1	A	G	1: 9,818,378 (GRCm39)	S2P	unknown	Het
Vmn2r98	T	C	17: 19,301,184 (GRCm39)	Y729H	probably benign	Het
Wdr18	A	T	10: 79,801,944 (GRCm39)	D243V	probably benign	Het
Xirp2	T	C	2: 67,343,633 (GRCm39)	V1958A	probably benign	Het
Zfp451	A	T	1: 33,816,474 (GRCm39)	M492K	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	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
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'- GAAACATGACACCAGGCTGC -3'
(R):5'- CGATGACATGAATCTGCTGTG -3'

Sequencing Primer
(F):5'- TGACACCAGGCTGCCAATG -3'
(R):5'- GACATGAATCTGCTGTGGACATATGC -3'

Posted On

2019-05-13