Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Mfsd13b'

570285

Institutional Source

Beutler Lab

Gene Symbol

Mfsd13b

Ensembl Gene

ENSMUSG00000030877

Gene Name

major facilitator superfamily domain containing 13B

Synonyms

4933427G17Rik

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120982509-121014787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120991728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 231 (M231L)

Ref Sequence

ENSEMBL: ENSMUSP00000033166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000138177] [ENSMUST00000149535] [ENSMUST00000216241]

AlphaFold

A0A1L1SUA2

Predicted Effect

probably benign
Transcript: ENSMUST00000033166
AA Change: M231L

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: M231L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133939

SMART Domains

Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877

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 benign
Transcript: ENSMUST00000138177

Predicted Effect

probably benign
Transcript: ENSMUST00000149535

SMART Domains

Protein: ENSMUSP00000115341
Gene: ENSMUSG00000030877

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216241
AA Change: M231L

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,282,646	E22V	possibly damaging	Het
4930564D02Rik	G	T	3: 105,078,412	R47S	unknown	Het
4931408C20Rik	A	T	1: 26,684,467	L544Q	probably benign	Het
Abtb2	T	G	2: 103,567,412	I229S	probably damaging	Het
Adgre1	T	C	17: 57,420,441	L457P	probably damaging	Het
Amer3	C	A	1: 34,587,902	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,849,035	S729P	probably benign	Het
Asap2	T	G	12: 21,229,457	I418S	probably benign	Het
Atp5j2	T	C	5: 145,188,485		probably null	Het
Brinp3	T	A	1: 146,902,086	V757E	probably benign	Het
Brip1	C	T	11: 86,139,103	G572R	probably benign	Het
C3	C	A	17: 57,223,215	R462L	probably benign	Het
Cat	T	A	2: 103,463,298	H395L	probably benign	Het
Cela3a	T	C	4: 137,402,606	N235D	possibly damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,185,268	G993W	probably damaging	Het
Col9a1	A	G	1: 24,179,403		probably null	Het
Coro2b	G	T	9: 62,489,372	H29N	probably benign	Het
Dll3	C	T	7: 28,299,111	R143H	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530	*114R	probably null	Het
Ecm2	T	C	13: 49,515,078	S86P	probably damaging	Het
Eif5	T	C	12: 111,540,290		probably benign	Het
Ets1	T	A	9: 32,733,032		probably null	Het
Exph5	A	G	9: 53,375,896	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,687,666	F110L	probably benign	Het
Flt1	T	A	5: 147,580,381	E1032V	probably damaging	Het
Galnt5	A	T	2: 58,017,193	H556L	probably benign	Het
Glb1l3	A	T	9: 26,829,003	Y344N	probably benign	Het
Glrx3	C	A	7: 137,459,286	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,591,375	C246S	probably damaging	Het
Gm8251	G	T	1: 44,059,496	P814Q	probably damaging	Het
Gm906	T	C	13: 50,245,744	I849V	probably benign	Het
Gstm4	A	G	3: 108,042,373	L137P	probably benign	Het
Hsd17b13	T	C	5: 103,968,750	T169A	probably damaging	Het
Hydin	A	C	8: 110,600,362	T4778P	probably benign	Het
Ifna15	A	G	4: 88,557,983	L88P	probably damaging	Het
Kcnab1	G	A	3: 65,376,531	R390H	probably benign	Het
Kng1	C	A	16: 23,067,787	H161N	possibly damaging	Het
Lamp5	T	C	2: 136,060,958	V199A	probably benign	Het
Lrig3	G	A	10: 126,009,966	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,144,044	R412H	probably damaging	Het
March6	C	A	15: 31,486,359	C350F	probably benign	Het
Mastl	A	G	2: 23,133,389	S441P	probably damaging	Het
Micalcl	T	C	7: 112,382,151	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	A	G	11: 60,477,961	M516V	probably benign	Het
Myo1b	A	T	1: 51,751,254	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,569,321	L381*	probably null	Het
Nln	T	C	13: 104,050,847	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,745,504	P271S	probably benign	Het
Obox6	A	C	7: 15,834,646	L102V	possibly damaging	Het
Olfr1008	T	C	2: 85,689,837	M136T	probably damaging	Het
Olfr1208	T	C	2: 88,897,271	I109V	possibly damaging	Het
Olfr1241	T	C	2: 89,482,455	S227G	probably benign	Het
Olfr853	A	G	9: 19,537,099	M277T	probably damaging	Het
Pde10a	A	G	17: 8,967,462	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,183,098	S760L	possibly damaging	Het
Pid1	T	A	1: 84,159,129	I94L	unknown	Het
Plekhn1	T	C	4: 156,222,671	H474R	probably benign	Het
Prcc	A	T	3: 87,869,681	S329T	possibly damaging	Het
Pros1	G	T	16: 62,919,523	R445L	probably damaging	Het
Pxdn	C	A	12: 30,012,261	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,682,458		probably null	Het
Slc6a1	T	C	6: 114,311,818	V446A	probably damaging	Het
Slc6a4	C	G	11: 77,017,085	Y358*	probably null	Het
Sned1	A	C	1: 93,281,736	E857A	probably damaging	Het
Spdye4b	C	T	5: 143,202,390	R213C	possibly damaging	Het
Spry2	T	G	14: 105,893,512	E80A	probably damaging	Het
Stard9	G	A	2: 120,666,534	C142Y	probably benign	Het
Sync	A	T	4: 129,294,306	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,485,692	C718R		Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmbim1	T	C	1: 74,291,279	E185G	probably benign	Het
Tyk2	T	C	9: 21,108,034	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,748,501	V87I	not run	Het
Vmn2r49	A	G	7: 9,986,814	V250A	probably benign	Het
Yipf3	A	C	17: 46,250,827	T187P	probably damaging	Het
Zfp148	G	T	16: 33,434,790	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het

Other mutations in Mfsd13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Mfsd13b	APN	7	120998909	missense	probably damaging	1.00
IGL02985:Mfsd13b	APN	7	121000172	missense	probably damaging	1.00
R1159:Mfsd13b	UTSW	7	121014543	missense	probably damaging	0.98
R2041:Mfsd13b	UTSW	7	120991916	splice site	probably benign
R2080:Mfsd13b	UTSW	7	120991824	missense	probably null
R4762:Mfsd13b	UTSW	7	120991326	missense	probably damaging	1.00
R4885:Mfsd13b	UTSW	7	120991488	missense	possibly damaging	0.80
R5082:Mfsd13b	UTSW	7	120998978	missense	possibly damaging	0.94
R5282:Mfsd13b	UTSW	7	120991833	missense	probably damaging	0.98
R5296:Mfsd13b	UTSW	7	120991738	missense	probably damaging	1.00
R5411:Mfsd13b	UTSW	7	121000123	missense	probably benign	0.03
R6563:Mfsd13b	UTSW	7	120995467	missense	probably damaging	0.99
R8128:Mfsd13b	UTSW	7	120991272	missense	possibly damaging	0.79
R8520:Mfsd13b	UTSW	7	120991363	missense	probably benign
R9583:Mfsd13b	UTSW	7	120998911	missense	possibly damaging	0.56
Z1176:Mfsd13b	UTSW	7	120991677	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGCCTCATCTCTCACAACATG -3'
(R):5'- AACACACGGAGAGTCTTCAC -3'

Sequencing Primer
(F):5'- TGGAAATCCTGCCCAATTTTCAAGC -3'
(R):5'- GAGTCTTCACACATACCTGAGGG -3'

Posted On

2019-09-13