Mutagenetix > Incidental Mutations

Incidental Mutation 'R6514:Mfsd13a'

520557

Institutional Source

Beutler Lab

Gene Symbol

Mfsd13a

Ensembl Gene

ENSMUSG00000025227

Gene Name

major facilitator superfamily domain containing 13a

Synonyms

4930538D17Rik, Tmem180, 4930449A08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.439) question?

Stock #

R6514 (G1)

Quality Score

157.009

Status

Validated

Chromosome

Chromosomal Location

46341121-46375252 bp(+) (GRCm38)

Type of Mutation

splice site (2189 bp from exon)

DNA Base Change (assembly)

T to C at 46374625 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040270] [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000142994]

Predicted Effect

probably null
Transcript: ENSMUST00000040270

SMART Domains

Protein: ENSMUSP00000039844
Gene: ENSMUSG00000025228

Domain	Start	End	E-Value	Type
ACTIN	9	376	4.18e-203	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086969
AA Change: F491L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: F491L

Domain	Start	End	E-Value	Type
Pfam:MFS_2	15	441	6.2e-23	PFAM
low complexity region	453	463	N/A	INTRINSIC
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128041
AA Change: F491L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: F491L

Domain	Start	End	E-Value	Type
Pfam:MFS_2	9	441	1.1e-26	PFAM
low complexity region	453	463	N/A	INTRINSIC
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137143

Predicted Effect

probably benign
Transcript: ENSMUST00000142994

SMART Domains

Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227

Domain	Start	End	E-Value	Type
Pfam:MFS_2	8	318	7.8e-17	PFAM

Meta Mutation Damage Score

0.6979

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

95% (35/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	G	A	11: 50,942,742	A11V	unknown	Het
Add1	T	A	5: 34,605,973	H168Q	probably damaging	Het
Apol7b	C	T	15: 77,423,926	R123Q	probably benign	Het
Arrdc3	A	G	13: 80,889,190	E155G	probably damaging	Het
Capn7	T	G	14: 31,344,554	D108E	probably benign	Het
Cdc6	A	G	11: 98,919,292	T476A	probably benign	Het
Cntnap5c	A	G	17: 58,330,170	E1014G	probably damaging	Het
Crybg1	A	T	10: 43,997,215	L1299H	probably damaging	Het
Duoxa1	A	G	2: 122,304,713	S184P	probably benign	Het
Ech1	A	G	7: 28,826,015	H65R	possibly damaging	Het
Egr3	T	C	14: 70,078,917	L59P	probably damaging	Het
Eif4enif1	T	A	11: 3,240,996	D724E	probably null	Het
Erbb2	A	G	11: 98,420,146	D44G	probably benign	Het
Fer1l5	A	G	1: 36,403,616	I739V	probably benign	Het
Gfm1	T	C	3: 67,473,546	F665L	probably benign	Het
Gm10801	T	A	2: 98,663,869	W119R	probably benign	Het
H2-M11	A	T	17: 36,548,947	E277D	probably damaging	Het
Ighv1-66	T	C	12: 115,593,120	Y114C	possibly damaging	Het
Irf1	C	G	11: 53,771,322	L12V	probably damaging	Het
Itpr3	C	T	17: 27,091,370	A403V	probably benign	Het
Ly6g	C	T	15: 75,156,732	P14S	probably benign	Het
Mme	T	A	3: 63,364,844	C621*	probably null	Het
Mmp16	T	C	4: 18,116,123	C576R	probably damaging	Het
Ngp	A	T	9: 110,419,949	I30F	probably damaging	Het
Olfr450	T	A	6: 42,817,996	I175N	probably damaging	Het
Pdcd6ip	G	A	9: 113,689,694	T166I	probably benign	Het
Pgd	C	T	4: 149,160,752		probably null	Het
Plcb4	T	A	2: 135,954,996	H440Q	probably benign	Het
Ppl	A	G	16: 5,087,317	S1705P	probably damaging	Het
Ryr1	A	G	7: 29,046,841	F3831S	probably damaging	Het
Serpine2	A	C	1: 79,821,570		probably null	Het
Skor2	T	A	18: 76,862,694	W906R	probably damaging	Het
Tle6	G	A	10: 81,591,976	H482Y	probably damaging	Het
Ufl1	T	A	4: 25,262,238	D336V	probably damaging	Het
Vav1	T	C	17: 57,327,660	F832L	probably damaging	Het

Other mutations in Mfsd13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Mfsd13a	APN	19	46366519	missense	probably damaging	1.00
IGL01380:Mfsd13a	APN	19	46367908	missense	probably damaging	1.00
IGL01773:Mfsd13a	APN	19	46369294	missense	possibly damaging	0.60
IGL02458:Mfsd13a	APN	19	46372247	missense	probably damaging	1.00
IGL02955:Mfsd13a	APN	19	46367753	missense	possibly damaging	0.81
R0057:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0113:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0114:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0115:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0361:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0656:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1174:Mfsd13a	UTSW	19	46374686	missense	probably benign	0.13
R1210:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1251:Mfsd13a	UTSW	19	46372053	missense	probably damaging	1.00
R1364:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1365:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1366:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1367:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1692:Mfsd13a	UTSW	19	46372076	missense	probably benign	0.00
R1852:Mfsd13a	UTSW	19	46372180	critical splice acceptor site	probably null
R1968:Mfsd13a	UTSW	19	46372053	missense	probably damaging	1.00
R2846:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R2985:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3415:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3416:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3431:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3432:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3735:Mfsd13a	UTSW	19	46368328	missense	probably damaging	1.00
R4393:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R4394:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R4396:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R4920:Mfsd13a	UTSW	19	46367216	missense	probably damaging	1.00
R5289:Mfsd13a	UTSW	19	46368280	missense	probably benign	0.00
R5806:Mfsd13a	UTSW	19	46366410	missense	probably benign	0.01
R6153:Mfsd13a	UTSW	19	46367882	missense	probably damaging	1.00
R6558:Mfsd13a	UTSW	19	46366478	missense	probably damaging	1.00
R6649:Mfsd13a	UTSW	19	46367866	missense	probably damaging	0.99
R6649:Mfsd13a	UTSW	19	46372265	missense	probably benign
R6653:Mfsd13a	UTSW	19	46367866	missense	probably damaging	0.99
R6911:Mfsd13a	UTSW	19	46369277	missense	probably damaging	1.00
R7022:Mfsd13a	UTSW	19	46368324	nonsense	probably null
R7334:Mfsd13a	UTSW	19	46368370	missense	probably damaging	1.00
R7525:Mfsd13a	UTSW	19	46369277	missense	probably damaging	1.00
R7976:Mfsd13a	UTSW	19	46372007	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GACCATGCTCCTCTTGTGTG -3'
(R):5'- TTCTCTAGGCTGAACCCAGAGG -3'

Sequencing Primer
(F):5'- TGTGTGCTCTCACCCCAGG -3'
(R):5'- GTGAGGAAACAGGATGCTGGTC -3'

Posted On

2018-06-06