Mutagenetix > Incidental Mutation

Incidental Mutation 'R6173:Mfap4'

526476

Institutional Source

Beutler Lab

Gene Symbol

Mfap4

Ensembl Gene

ENSMUSG00000042436

Gene Name

microfibrillar-associated protein 4

Synonyms

1110007F23Rik

MMRRC Submission

044316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6173 (G1)

Quality Score

66.0074

Status

Validated

Chromosome

Chromosomal Location

61376257-61379536 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 61376245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040522] [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]

AlphaFold

Q9D1H9

Predicted Effect

probably benign
Transcript: ENSMUST00000040522

SMART Domains

Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FBG	38	280	5.6e-119	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000064783

SMART Domains

Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FBG	38	257	3.39e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079080

SMART Domains

Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
S_TKc	55	347	5.66e-96	SMART
low complexity region	433	447	N/A	INTRINSIC
low complexity region	476	492	N/A	INTRINSIC
coiled coil region	508	544	N/A	INTRINSIC
low complexity region	578	603	N/A	INTRINSIC
low complexity region	620	644	N/A	INTRINSIC
low complexity region	675	692	N/A	INTRINSIC
low complexity region	758	772	N/A	INTRINSIC
low complexity region	791	803	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101085

SMART Domains

Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034

Domain	Start	End	E-Value	Type
S_TKc	4	277	3.48e-73	SMART
low complexity region	363	377	N/A	INTRINSIC
coiled coil region	405	441	N/A	INTRINSIC
low complexity region	475	500	N/A	INTRINSIC
low complexity region	517	541	N/A	INTRINSIC
low complexity region	572	589	N/A	INTRINSIC
low complexity region	655	669	N/A	INTRINSIC
low complexity region	688	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108714

SMART Domains

Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034

Domain	Start	End	E-Value	Type
S_TKc	1	278	1.76e-74	SMART
low complexity region	364	378	N/A	INTRINSIC
low complexity region	407	423	N/A	INTRINSIC
coiled coil region	439	475	N/A	INTRINSIC
low complexity region	509	534	N/A	INTRINSIC
low complexity region	551	575	N/A	INTRINSIC
low complexity region	606	623	N/A	INTRINSIC
low complexity region	689	703	N/A	INTRINSIC
low complexity region	722	734	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152755

Predicted Effect

probably benign
Transcript: ENSMUST00000153441

SMART Domains

Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034

Domain	Start	End	E-Value	Type
PDB:4IC8\|B	1	49	2e-26	PDB
low complexity region	51	65	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
coiled coil region	126	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127073

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneous air space enlargement in female mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	T	C	3: 126,846,395 (GRCm39)	D219G	probably damaging	Het
Arap2	A	T	5: 62,906,965 (GRCm39)	I18N	probably damaging	Het
Baz1b	T	C	5: 135,271,361 (GRCm39)	S1315P	probably benign	Het
Bbs7	A	T	3: 36,646,523 (GRCm39)	C432*	probably null	Het
Bend3	A	G	10: 43,385,864 (GRCm39)	T86A	probably benign	Het
Cadm2	C	T	16: 66,679,729 (GRCm39)	V35I	probably benign	Het
Ch25h	A	G	19: 34,451,896 (GRCm39)	S211P	probably damaging	Het
Chd5	A	T	4: 152,463,848 (GRCm39)	H1476L	probably damaging	Het
Chia1	T	C	3: 106,036,338 (GRCm39)		probably null	Het
Clpx	C	A	9: 65,209,161 (GRCm39)	S92*	probably null	Het
Dazl	A	T	17: 50,594,599 (GRCm39)	M152K	probably benign	Het
Dnah17	A	G	11: 117,930,772 (GRCm39)	S3748P	probably damaging	Het
Dock2	T	C	11: 34,212,388 (GRCm39)	K1251R	probably null	Het
Esr1	T	C	10: 4,696,760 (GRCm39)	V203A	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,588 (GRCm39)	I262T	probably damaging	Het
Foxp1	G	A	6: 98,992,471 (GRCm39)	Q41*	probably null	Het
Foxp1	C	A	6: 98,992,475 (GRCm39)		probably null	Het
Fshb	T	C	2: 106,887,638 (GRCm39)	E127G	possibly damaging	Het
Galk2	A	G	2: 125,701,137 (GRCm39)		probably benign	Het
Gid4	A	G	11: 60,323,241 (GRCm39)	D111G	probably damaging	Het
Gm14412	G	A	2: 177,006,330 (GRCm39)	P522S	probably damaging	Het
Iqank1	A	G	15: 75,917,237 (GRCm39)	E290G	probably damaging	Het
Mfsd2a	A	G	4: 122,845,039 (GRCm39)	V224A	probably benign	Het
Mocos	A	T	18: 24,809,639 (GRCm39)	Y414F	probably benign	Het
Mrto4	T	C	4: 139,077,755 (GRCm39)	I27V	probably benign	Het
Muc4	A	G	16: 32,554,958 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,840,752 (GRCm39)	I534N	probably damaging	Het
Mup20	A	T	4: 61,972,267 (GRCm39)	L7Q	unknown	Het
Nlrp2	T	C	7: 5,340,808 (GRCm39)	E2G	probably damaging	Het
Or11g1	A	G	14: 50,651,654 (GRCm39)	I218V	possibly damaging	Het
Or12k7	A	G	2: 36,959,091 (GRCm39)	Y258C	possibly damaging	Het
Or2y16	T	C	11: 49,335,299 (GRCm39)	V207A	probably benign	Het
Or6z5	C	T	7: 6,477,835 (GRCm39)	A242V	probably damaging	Het
Parn	T	C	16: 13,469,675 (GRCm39)	T209A	possibly damaging	Het
Psip1	T	A	4: 83,391,286 (GRCm39)		probably null	Het
Ptprc	A	C	1: 137,995,628 (GRCm39)	C1157G	probably damaging	Het
Rad17	A	C	13: 100,759,389 (GRCm39)	V546G	probably benign	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Safb	A	G	17: 56,904,798 (GRCm39)	E124G	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Skint5	T	C	4: 113,392,907 (GRCm39)	T1242A	unknown	Het
Slc13a5	C	T	11: 72,144,023 (GRCm39)	E352K	probably benign	Het
Sohlh2	G	T	3: 55,104,419 (GRCm39)	V263F	probably benign	Het
Strn	A	G	17: 79,008,298 (GRCm39)	Y107H	probably damaging	Het
Tbx15	G	T	3: 99,161,203 (GRCm39)	E3*	probably null	Het
Tespa1	A	G	10: 130,183,172 (GRCm39)	D39G	probably benign	Het
Trp73	A	T	4: 154,188,798 (GRCm39)	D54E	probably damaging	Het
Ttll5	A	T	12: 85,980,151 (GRCm39)	S912C	probably damaging	Het
Utp14b	A	T	1: 78,643,554 (GRCm39)	D484V	probably benign	Het
Utp14b	A	C	1: 78,643,557 (GRCm39)	N485T	probably benign	Het
Vmn2r29	T	C	7: 7,234,369 (GRCm39)	E839G	probably benign	Het
Vmn2r6	G	C	3: 64,467,176 (GRCm39)	P108A	probably damaging	Het
Vps8	T	G	16: 21,314,682 (GRCm39)		probably null	Het
Zfp36l1	A	T	12: 80,156,320 (GRCm39)		probably null	Het
Zfp998	T	A	13: 66,579,608 (GRCm39)	T292S	probably benign	Het
Zp3r	A	T	1: 130,519,305 (GRCm39)		probably null	Het

Other mutations in Mfap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Mfap4	APN	11	61,378,607 (GRCm39)	missense	possibly damaging	0.94
IGL01482:Mfap4	APN	11	61,378,583 (GRCm39)	missense	probably damaging	1.00
R0512:Mfap4	UTSW	11	61,378,771 (GRCm39)	missense	probably damaging	1.00
R0631:Mfap4	UTSW	11	61,378,006 (GRCm39)	missense	probably damaging	0.99
R1991:Mfap4	UTSW	11	61,376,633 (GRCm39)	critical splice donor site	probably null
R2680:Mfap4	UTSW	11	61,378,057 (GRCm39)	missense	probably benign	0.03
R4614:Mfap4	UTSW	11	61,376,335 (GRCm39)	unclassified	probably benign
R4616:Mfap4	UTSW	11	61,376,335 (GRCm39)	unclassified	probably benign
R4617:Mfap4	UTSW	11	61,376,335 (GRCm39)	unclassified	probably benign
R4675:Mfap4	UTSW	11	61,376,336 (GRCm39)	unclassified	probably benign
R4987:Mfap4	UTSW	11	61,376,908 (GRCm39)	missense	probably benign	0.14
R5381:Mfap4	UTSW	11	61,378,756 (GRCm39)	missense	probably benign	0.06
R7640:Mfap4	UTSW	11	61,377,913 (GRCm39)	missense	probably damaging	1.00
R7695:Mfap4	UTSW	11	61,376,545 (GRCm39)	critical splice acceptor site	probably null
R9245:Mfap4	UTSW	11	61,378,007 (GRCm39)	missense	probably damaging	1.00
R9558:Mfap4	UTSW	11	61,376,965 (GRCm39)	missense	probably benign	0.02
R9681:Mfap4	UTSW	11	61,376,925 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTGCCAAAGGACCCACAAG -3'
(R):5'- CTTTCAGAGGAAGGCCCAATATC -3'

Sequencing Primer
(F):5'- TCCAGGGTACAGTTGCGG -3'
(R):5'- TCCCCAGAACTTAAGTTTCAAGAG -3'

Posted On

2018-07-16