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: 0.114) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116852440-116875635 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116873335 bp (GRCm38)

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
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Mfsd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Mfsd11	APN	11	116858496	missense	probably benign	0.39
IGL00809:Mfsd11	APN	11	116859351	missense	probably damaging	0.97
IGL01999:Mfsd11	APN	11	116861585	missense	probably damaging	0.99
IGL02182:Mfsd11	APN	11	116873914	missense	possibly damaging	0.50
IGL02582:Mfsd11	APN	11	116873875	missense	probably damaging	0.99
IGL02794:Mfsd11	APN	11	116859351	missense	probably damaging	0.97
R0416:Mfsd11	UTSW	11	116865882	splice site	probably benign
R1229:Mfsd11	UTSW	11	116873297	missense	probably damaging	1.00
R1397:Mfsd11	UTSW	11	116873297	missense	probably damaging	1.00
R1929:Mfsd11	UTSW	11	116873914	missense	probably benign	0.00
R2081:Mfsd11	UTSW	11	116861555	missense	possibly damaging	0.92
R4554:Mfsd11	UTSW	11	116861580	missense	probably damaging	0.97
R5888:Mfsd11	UTSW	11	116871384	missense	probably damaging	1.00
R6959:Mfsd11	UTSW	11	116861669	critical splice donor site	probably null
R7807:Mfsd11	UTSW	11	116863907	missense	probably benign
R7990:Mfsd11	UTSW	11	116859497	missense	possibly damaging	0.84
R8073:Mfsd11	UTSW	11	116863923	missense	probably benign
R8692:Mfsd11	UTSW	11	116861617	missense	probably benign
R8851:Mfsd11	UTSW	11	116861653	missense	probably benign
R8887:Mfsd11	UTSW	11	116854700	critical splice donor site	probably null
R8954:Mfsd11	UTSW	11	116859336	missense	probably damaging	0.98
R9151:Mfsd11	UTSW	11	116859497	missense
R9318:Mfsd11	UTSW	11	116859572	missense	probably damaging	1.00
X0018:Mfsd11	UTSW	11	116854085	missense	probably benign	0.21
Z1176:Mfsd11	UTSW	11	116863940	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