Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Mfsd11'

710498

Institutional Source

Beutler Lab

Gene Symbol

Mfsd11

Ensembl Gene

ENSMUSG00000020818

Gene Name

major facilitator superfamily domain containing 11

Synonyms

2600014M03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116743266-116766461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116764161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 381 (S381A)

Ref Sequence

ENSEMBL: ENSMUSP00000021173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000136012] [ENSMUST00000139954] [ENSMUST00000153084]

AlphaFold

Q8BJ51

Predicted Effect

probably benign
Transcript: ENSMUST00000021173
AA Change: S381A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: S381A

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	166	6.5e-56	PFAM
transmembrane domain	173	190	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
transmembrane domain	305	327	N/A	INTRINSIC
transmembrane domain	410	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106363

SMART Domains

Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	92	6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106365

SMART Domains

Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136012

SMART Domains

Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139954

SMART Domains

Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153084
AA Change: S329A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: S329A

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	115	7.4e-33	PFAM
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC
transmembrane domain	358	380	N/A	INTRINSIC

Meta Mutation Damage Score

0.0771

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,613,884 (GRCm39)	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,479,271 (GRCm39)	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,963,608 (GRCm39)	E828D	probably damaging	Het
Ces1f	A	T	8: 93,996,600 (GRCm39)		probably null	Het
Cfap53	T	A	18: 74,432,414 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,877,983 (GRCm39)	Y1998C	probably damaging	Het
Col9a2	A	G	4: 120,911,948 (GRCm39)	T675A	probably benign	Het
Dusp6	G	A	10: 99,099,839 (GRCm39)	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,369,661 (GRCm39)	M22R	probably benign	Het
Fem1al	A	G	11: 29,775,107 (GRCm39)	S117P	probably damaging	Het
Gm19965	A	G	1: 116,749,566 (GRCm39)	N416D		Het
Gpr162	A	G	6: 124,838,357 (GRCm39)	Y98H	probably damaging	Het
Igfals	G	A	17: 25,100,600 (GRCm39)	V564I	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgb1	T	A	8: 129,433,637 (GRCm39)	N50K	probably benign	Het
Itpr3	A	T	17: 27,314,899 (GRCm39)	Y682F	possibly damaging	Het
Jak3	C	T	8: 72,136,696 (GRCm39)	P668S	probably damaging	Het
Malrd1	A	T	2: 15,707,967 (GRCm39)	N932I	unknown	Het
Mast4	C	A	13: 103,470,438 (GRCm39)	R88L	probably benign	Het
Mrm3	A	G	11: 76,140,856 (GRCm39)	D288G	probably damaging	Het
Myg1	G	T	15: 102,245,372 (GRCm39)	V198F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Npy6r	T	C	18: 44,408,759 (GRCm39)	I60T	probably damaging	Het
Or12j3	T	C	7: 139,952,930 (GRCm39)	T198A	probably benign	Het
Or13p3	A	T	4: 118,567,353 (GRCm39)	M250L	probably benign	Het
Or4f57	G	T	2: 111,790,872 (GRCm39)	P182H	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or5k14	C	T	16: 58,692,976 (GRCm39)	C179Y	probably damaging	Het
Or6c215	G	A	10: 129,637,540 (GRCm39)	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,893,841 (GRCm39)		probably benign	Het
Oxtr	C	A	6: 112,466,310 (GRCm39)	R150L	probably damaging	Het
Pappa	A	T	4: 65,099,125 (GRCm39)	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,912,890 (GRCm39)	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,132,781 (GRCm39)	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,777,577 (GRCm39)	L81Q	probably damaging	Het
Prss3b	C	T	6: 41,010,079 (GRCm39)	G85D	probably benign	Het
Ptprf	C	A	4: 118,093,236 (GRCm39)	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,304 (GRCm39)	N322K	probably damaging	Het
Rev3l	T	A	10: 39,698,967 (GRCm39)	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,151,131 (GRCm39)	Y96C	probably damaging	Het
Runx1	C	T	16: 92,410,568 (GRCm39)	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,466,092 (GRCm39)	Q125P	probably damaging	Het
Skic3	A	G	13: 76,275,158 (GRCm39)	D403G	probably benign	Het
Spef2	A	T	15: 9,725,307 (GRCm39)	M150K	probably damaging	Het
Srcap	T	G	7: 127,141,455 (GRCm39)	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,283,365 (GRCm39)	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811 (GRCm39)	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,179,193 (GRCm39)	D4427G	possibly damaging	Het
Tg	T	A	15: 66,561,173 (GRCm39)	M1065K	probably benign	Het
Tgm2	T	C	2: 157,959,816 (GRCm39)	T656A	probably benign	Het
Ubr4	A	G	4: 139,153,235 (GRCm39)	K809E		Het
Vmn1r88	T	C	7: 12,912,546 (GRCm39)	S301P	probably damaging	Het
Wdr27	A	G	17: 15,111,980 (GRCm39)	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,193,131 (GRCm39)	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,887,920 (GRCm39)	I379N	probably damaging	Het

Other mutations in Mfsd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Mfsd11	APN	11	116,749,322 (GRCm39)	missense	probably benign	0.39
IGL00809:Mfsd11	APN	11	116,750,177 (GRCm39)	missense	probably damaging	0.97
IGL01999:Mfsd11	APN	11	116,752,411 (GRCm39)	missense	probably damaging	0.99
IGL02182:Mfsd11	APN	11	116,764,740 (GRCm39)	missense	possibly damaging	0.50
IGL02582:Mfsd11	APN	11	116,764,701 (GRCm39)	missense	probably damaging	0.99
IGL02794:Mfsd11	APN	11	116,750,177 (GRCm39)	missense	probably damaging	0.97
R0416:Mfsd11	UTSW	11	116,756,708 (GRCm39)	splice site	probably benign
R1229:Mfsd11	UTSW	11	116,764,123 (GRCm39)	missense	probably damaging	1.00
R1397:Mfsd11	UTSW	11	116,764,123 (GRCm39)	missense	probably damaging	1.00
R1929:Mfsd11	UTSW	11	116,764,740 (GRCm39)	missense	probably benign	0.00
R2081:Mfsd11	UTSW	11	116,752,381 (GRCm39)	missense	possibly damaging	0.92
R4554:Mfsd11	UTSW	11	116,752,406 (GRCm39)	missense	probably damaging	0.97
R5888:Mfsd11	UTSW	11	116,762,210 (GRCm39)	missense	probably damaging	1.00
R6959:Mfsd11	UTSW	11	116,752,495 (GRCm39)	critical splice donor site	probably null
R7807:Mfsd11	UTSW	11	116,754,733 (GRCm39)	missense	probably benign
R7990:Mfsd11	UTSW	11	116,750,323 (GRCm39)	missense	possibly damaging	0.84
R8073:Mfsd11	UTSW	11	116,754,749 (GRCm39)	missense	probably benign
R8692:Mfsd11	UTSW	11	116,752,443 (GRCm39)	missense	probably benign
R8851:Mfsd11	UTSW	11	116,752,479 (GRCm39)	missense	probably benign
R8887:Mfsd11	UTSW	11	116,745,526 (GRCm39)	critical splice donor site	probably null
R8954:Mfsd11	UTSW	11	116,750,162 (GRCm39)	missense	probably damaging	0.98
R9151:Mfsd11	UTSW	11	116,750,323 (GRCm39)	missense
R9318:Mfsd11	UTSW	11	116,750,398 (GRCm39)	missense	probably damaging	1.00
X0018:Mfsd11	UTSW	11	116,744,911 (GRCm39)	missense	probably benign	0.21
Z1176:Mfsd11	UTSW	11	116,754,766 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGAGTTCAGGTGGTGCC -3'
(R):5'- GCCTCTCACCTAAGCAAGC -3'

Sequencing Primer
(F):5'- TTCAAAGAAGAGCATTGGGTCCTC -3'
(R):5'- AAGCCCACTGTGCCTGGTTC -3'

Posted On

2022-04-18