Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Mfsd4a'

559469

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4a

Ensembl Gene

ENSMUSG00000059149

Gene Name

major facilitator superfamily domain containing 4A

Synonyms

A930031D07Rik, Mfsd4

MMRRC Submission

045238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131950544-131995800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131980131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 375 (V375E)

Ref Sequence

ENSEMBL: ENSMUSP00000107989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046658] [ENSMUST00000112365] [ENSMUST00000112370] [ENSMUST00000126927] [ENSMUST00000144548] [ENSMUST00000146267] [ENSMUST00000159038] [ENSMUST00000160656] [ENSMUST00000161864]

AlphaFold

Q6PDC8

Predicted Effect

probably benign
Transcript: ENSMUST00000046658

SMART Domains

Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
transmembrane domain	81	99	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	218	240	N/A	INTRINSIC
transmembrane domain	245	267	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	309	331	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112365
AA Change: V375E

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

SMART Domains

Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: V375E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	430	1.3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112370
AA Change: V375E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: V375E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	405	1.1e-11	PFAM
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126927
AA Change: V375E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: V375E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	405	1.1e-11	PFAM
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000144548
AA Change: V375E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: V375E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	396	4.2e-12	PFAM
transmembrane domain	398	420	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146267

SMART Domains

Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159038
AA Change: V375E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: V375E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	20	395	6.8e-12	PFAM
transmembrane domain	398	420	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160656
AA Change: V269E

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: V269E

Domain	Start	End	E-Value	Type
transmembrane domain	2	20	N/A	INTRINSIC
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	85	104	N/A	INTRINSIC
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
transmembrane domain	292	314	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC
transmembrane domain	354	376	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161864
AA Change: V291E

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

SMART Domains

Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: V291E

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
Pfam:MFS_1	218	420	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162628

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,395,420 (GRCm39)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,989,416 (GRCm39)	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,375,270 (GRCm39)	S369G	unknown	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Robo1	C	A	16: 72,757,039 (GRCm39)	C333*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Schip1	A	T	3: 68,525,032 (GRCm39)	K359M	probably damaging	Het
Schip1	G	T	3: 68,525,033 (GRCm39)	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Stim2	T	A	5: 54,273,470 (GRCm39)	C567S	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	probably benign	Het

Other mutations in Mfsd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Mfsd4a	APN	1	131,968,332 (GRCm39)	missense	probably benign	0.34
IGL01348:Mfsd4a	APN	1	131,995,564 (GRCm39)	missense	probably null	0.96
IGL01621:Mfsd4a	APN	1	131,981,881 (GRCm39)	missense	probably benign	0.16
IGL01934:Mfsd4a	APN	1	131,974,049 (GRCm39)	missense	probably damaging	1.00
IGL02429:Mfsd4a	APN	1	131,956,237 (GRCm39)	missense	probably benign
R0362:Mfsd4a	UTSW	1	131,987,013 (GRCm39)	missense	probably damaging	1.00
R0551:Mfsd4a	UTSW	1	131,969,657 (GRCm39)	missense	probably damaging	1.00
R1435:Mfsd4a	UTSW	1	131,995,494 (GRCm39)	missense	probably damaging	1.00
R1566:Mfsd4a	UTSW	1	131,986,917 (GRCm39)	missense	probably damaging	1.00
R1739:Mfsd4a	UTSW	1	131,995,621 (GRCm39)	missense	possibly damaging	0.85
R1793:Mfsd4a	UTSW	1	131,987,077 (GRCm39)	missense	probably damaging	0.98
R1799:Mfsd4a	UTSW	1	131,981,334 (GRCm39)	missense	possibly damaging	0.63
R2244:Mfsd4a	UTSW	1	131,956,243 (GRCm39)	missense	probably benign	0.09
R3870:Mfsd4a	UTSW	1	131,974,091 (GRCm39)	missense	probably damaging	0.99
R4177:Mfsd4a	UTSW	1	131,968,295 (GRCm39)	missense	probably damaging	0.99
R4330:Mfsd4a	UTSW	1	131,981,291 (GRCm39)	missense	possibly damaging	0.71
R4705:Mfsd4a	UTSW	1	131,981,309 (GRCm39)	missense	probably damaging	1.00
R4717:Mfsd4a	UTSW	1	131,985,633 (GRCm39)	missense	probably benign	0.00
R5886:Mfsd4a	UTSW	1	131,995,465 (GRCm39)	missense	probably damaging	0.96
R5890:Mfsd4a	UTSW	1	131,966,666 (GRCm39)	missense	probably damaging	1.00
R7092:Mfsd4a	UTSW	1	131,995,401 (GRCm39)	missense	probably benign	0.06
R8675:Mfsd4a	UTSW	1	131,986,926 (GRCm39)	missense	probably damaging	1.00
R9668:Mfsd4a	UTSW	1	131,969,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAAGGCTACACGAATAGGATC -3'
(R):5'- TCTGAGTGAGGCTTGCTCTC -3'

Sequencing Primer
(F):5'- CGAATAGGATCTTCGTCCTTGGTC -3'
(R):5'- GAGTGAGGCTTGCTCTCTCTTCAC -3'

Posted On

2019-06-26