Mutagenetix > Incidental Mutations

Incidental Mutation 'R7525:Mfsd13a'

582953

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: 0.346) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46341121-46375252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46369277 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 290 (F290S)

Ref Sequence

ENSEMBL: ENSMUSP00000122944 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086969
AA Change: F290S

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

SMART Domains

Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: F290S

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: F290S

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

SMART Domains

Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: F290S

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

probably damaging
Transcript: ENSMUST00000142994
AA Change: F290S

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

SMART Domains

Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: F290S

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

Meta Mutation Damage Score

0.9336

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,183,355	T998A	probably damaging	Het
AI314180	A	G	4: 58,847,038	I508T	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Akt3	T	A	1: 177,020,107	K465*	probably null	Het
Ankar	T	C	1: 72,688,641	D371G	probably benign	Het
Ankib1	T	G	5: 3,755,734	N178H	possibly damaging	Het
Arhgap10	A	G	8: 77,420,070		probably null	Het
Arhgef4	A	G	1: 34,809,704	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,461,684		probably benign	Het
Camk4	T	C	18: 33,185,032	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,454,092	V139E	possibly damaging	Het
Dhrs13	C	A	11: 78,032,434	N21K	unknown	Het
Dopey1	C	T	9: 86,506,290	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160	Q13*	probably null	Het
Eif2ak1	T	C	5: 143,886,898	S388P	probably damaging	Het
Emilin2	T	C	17: 71,274,979	S251G	probably benign	Het
Eml4	T	A	17: 83,445,950	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,590,080	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,597,672	N264I	probably benign	Het
Gm13124	A	G	4: 144,565,010	F42S	probably damaging	Het
Gzme	A	C	14: 56,119,333	D57E	probably benign	Het
H2-D1	A	G	17: 35,265,933	T257A	probably damaging	Het
Hectd4	C	A	5: 121,343,665	D3092E	possibly damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Hspbp1	A	G	7: 4,663,436	L315P	probably damaging	Het
Insr	A	T	8: 3,192,642	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,639,465	I582N	probably damaging	Het
Lrit2	A	G	14: 37,072,493	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,657,416	N4251K		Het
Mgam	T	G	6: 40,766,020	N1791K	probably benign	Het
Mroh7	A	T	4: 106,709,702	I450N	probably benign	Het
Mylk	G	A	16: 34,988,987	M1771I	probably benign	Het
Olfr1335	A	T	4: 118,809,494	F123L	probably damaging	Het
Olfr26	A	T	9: 38,855,238	M59L	possibly damaging	Het
Olfr612	A	T	7: 103,539,131	C34*	probably null	Het
Olfr972	T	A	9: 39,874,139	L288*	probably null	Het
Parp14	A	T	16: 35,857,491	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,662,228	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,642,590	T373A	probably damaging	Het
Pdzph1	A	G	17: 58,967,341	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,530,922	N322I	probably benign	Het
Pikfyve	C	T	1: 65,244,426	R741*	probably null	Het
Pip4k2c	A	G	10: 127,208,904	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,166,619	F271L	probably damaging	Het
Prkdc	A	T	16: 15,672,327	Y565F	probably damaging	Het
Prom2	T	C	2: 127,532,781	R612G	probably benign	Het
Psap	T	C	10: 60,299,474	V303A	probably benign	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,613,530	K446N	probably benign	Het
Slc39a12	T	A	2: 14,494,461	M661K	probably benign	Het
Slc6a16	T	C	7: 45,259,113	L39P	probably benign	Het
Syne1	T	G	10: 5,185,559		probably null	Het
Taar8c	T	C	10: 24,101,866	N16S	probably benign	Het
Tmem98	A	G	11: 80,817,518	T105A	probably damaging	Het
Tmub1	T	A	5: 24,446,013	Y216F	probably damaging	Het
Trim16	T	G	11: 62,820,754	C84G	probably damaging	Het
Ttn	T	A	2: 76,731,229	K28978*	probably null	Het
Usp38	A	G	8: 81,014,246	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,926,982	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,961,302	W61R	probably benign	Het
Whamm	G	T	7: 81,593,850	G607C	probably damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp398	A	G	6: 47,865,818	D268G	probably benign	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
R6514:Mfsd13a	UTSW	19	46374625	splice site	probably null
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
R7976:Mfsd13a	UTSW	19	46372007	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATTCCATAGGCCACAAGGGATTG -3'
(R):5'- TGCACTTTGTCACAGTGCC -3'

Sequencing Primer
(F):5'- GCCACAAGGGATTGTCATTTAG -3'
(R):5'- TCACAGTGCCTCTGGGTGTC -3'

Posted On

2019-10-17