Mutagenetix > Incidental Mutation

Incidental Mutation 'R2985:Mfsd13a'

257793

Institutional Source

Beutler Lab

Gene Symbol

Mfsd13a

Ensembl Gene

ENSMUSG00000025227

Gene Name

major facilitator superfamily domain containing 13a

Synonyms

4930538D17Rik, 4930449A08Rik, Tmem180

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R2985 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

46345315-46363693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46360431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 328 (R328C)

Ref Sequence

ENSEMBL: ENSMUSP00000119072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040270] [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000128455] [ENSMUST00000142994]

AlphaFold

Q6PDE8

Predicted Effect

probably benign
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: R328C

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

SMART Domains

Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: R328C

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: R328C

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

SMART Domains

Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: R328C

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

probably benign
Transcript: ENSMUST00000128455

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

0.3030

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Ccdc83	A	G	7: 89,885,575 (GRCm39)		probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cul1	T	A	6: 47,479,441 (GRCm39)	F236I	probably damaging	Het
Etl4	T	C	2: 20,786,660 (GRCm39)	V470A	probably damaging	Het
Fndc1	T	C	17: 7,975,155 (GRCm39)	E1428G	possibly damaging	Het
Gal3st1	A	G	11: 3,948,618 (GRCm39)	Y275C	probably damaging	Het
Jakmip2	G	A	18: 43,704,246 (GRCm39)	T366I	possibly damaging	Het
Obscn	A	G	11: 59,023,915 (GRCm39)	F585S	probably damaging	Het
Or8b56	G	A	9: 38,739,406 (GRCm39)	V140I	probably benign	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Pcdha9	A	G	18: 37,131,255 (GRCm39)	N108S	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,290 (GRCm39)	S501G	probably benign	Het
Pls1	G	A	9: 95,667,635 (GRCm39)	T91M	possibly damaging	Het
Prr12	G	C	7: 44,695,436 (GRCm39)	S1343R	unknown	Het
Trpm5	G	T	7: 142,636,675 (GRCm39)	L421I	probably damaging	Het
Ttn	A	T	2: 76,574,618 (GRCm39)	V25425E	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	probably benign	Het

Other mutations in Mfsd13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Mfsd13a	APN	19	46,354,958 (GRCm39)	missense	probably damaging	1.00
IGL01380:Mfsd13a	APN	19	46,356,347 (GRCm39)	missense	probably damaging	1.00
IGL01773:Mfsd13a	APN	19	46,357,733 (GRCm39)	missense	possibly damaging	0.60
IGL02458:Mfsd13a	APN	19	46,360,686 (GRCm39)	missense	probably damaging	1.00
IGL02955:Mfsd13a	APN	19	46,356,192 (GRCm39)	missense	possibly damaging	0.81
R0057:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R0113:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R0114:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R0115:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R0361:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R0656:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R1174:Mfsd13a	UTSW	19	46,363,125 (GRCm39)	missense	probably benign	0.13
R1210:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R1251:Mfsd13a	UTSW	19	46,360,492 (GRCm39)	missense	probably damaging	1.00
R1364:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R1365:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R1366:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R1367:Mfsd13a	UTSW	19	46,354,943 (GRCm39)	missense	probably benign	0.22
R1692:Mfsd13a	UTSW	19	46,360,515 (GRCm39)	missense	probably benign	0.00
R1852:Mfsd13a	UTSW	19	46,360,619 (GRCm39)	critical splice acceptor site	probably null
R1968:Mfsd13a	UTSW	19	46,360,492 (GRCm39)	missense	probably damaging	1.00
R2846:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R3415:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R3416:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R3431:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R3432:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R3735:Mfsd13a	UTSW	19	46,356,767 (GRCm39)	missense	probably damaging	1.00
R4393:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R4394:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R4396:Mfsd13a	UTSW	19	46,360,431 (GRCm39)	missense	probably damaging	1.00
R4920:Mfsd13a	UTSW	19	46,355,655 (GRCm39)	missense	probably damaging	1.00
R5289:Mfsd13a	UTSW	19	46,356,719 (GRCm39)	missense	probably benign	0.00
R5806:Mfsd13a	UTSW	19	46,354,849 (GRCm39)	missense	probably benign	0.01
R6153:Mfsd13a	UTSW	19	46,356,321 (GRCm39)	missense	probably damaging	1.00
R6514:Mfsd13a	UTSW	19	46,363,064 (GRCm39)	splice site	probably null
R6558:Mfsd13a	UTSW	19	46,354,917 (GRCm39)	missense	probably damaging	1.00
R6649:Mfsd13a	UTSW	19	46,360,704 (GRCm39)	missense	probably benign
R6649:Mfsd13a	UTSW	19	46,356,305 (GRCm39)	missense	probably damaging	0.99
R6653:Mfsd13a	UTSW	19	46,356,305 (GRCm39)	missense	probably damaging	0.99
R6911:Mfsd13a	UTSW	19	46,357,716 (GRCm39)	missense	probably damaging	1.00
R7022:Mfsd13a	UTSW	19	46,356,763 (GRCm39)	nonsense	probably null
R7334:Mfsd13a	UTSW	19	46,356,809 (GRCm39)	missense	probably damaging	1.00
R7525:Mfsd13a	UTSW	19	46,357,716 (GRCm39)	missense	probably damaging	1.00
R7976:Mfsd13a	UTSW	19	46,360,446 (GRCm39)	missense	probably benign	0.03
R8696:Mfsd13a	UTSW	19	46,356,557 (GRCm39)	missense	probably benign
R8771:Mfsd13a	UTSW	19	46,360,668 (GRCm39)	missense	probably damaging	0.99
R8857:Mfsd13a	UTSW	19	46,356,567 (GRCm39)	missense	probably benign	0.00
R9056:Mfsd13a	UTSW	19	46,354,900 (GRCm39)	missense	probably benign	0.04
R9432:Mfsd13a	UTSW	19	46,354,868 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGACATTGTCTGTTGGCAATGAATG -3'
(R):5'- TCAGCAGCTTACAGGTACCC -3'

Sequencing Primer
(F):5'- TGCAAACTGACCCCGATTATTAC -3'
(R):5'- GCTTACAGGTACCCTCAGTGAAG -3'

Posted On

2015-01-11