Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Mfap4'

250940

Institutional Source

Beutler Lab

Gene Symbol

Mfap4

Ensembl Gene

ENSMUSG00000042436

Gene Name

microfibrillar-associated protein 4

Synonyms

1110007F23Rik

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61485431-61488900 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61487231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 190 (Y190H)

Ref Sequence

ENSEMBL: ENSMUSP00000038971 (fasta)

Gene Model

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

AlphaFold

Q9D1H9

Predicted Effect

probably benign
Transcript: ENSMUST00000040522
AA Change: Y190H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436
AA Change: Y190H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064783
AA Change: Y166H

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

SMART Domains

Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436
AA Change: Y166H

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: ENSMUST00000123360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140779

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	T	C	7: 139,978,561	D41G	probably damaging	Het
BC024139	A	G	15: 76,121,739	W421R	probably damaging	Het
Car11	T	C	7: 45,702,485	S113P	probably benign	Het
Ccdc146	C	T	5: 21,305,269	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,517,135	T283A	probably benign	Het
Ckap5	A	G	2: 91,588,698	I1118V	probably benign	Het
Copa	C	T	1: 172,121,404	Q1199*	probably null	Het
Cpd	A	T	11: 76,790,999	N1140K	probably benign	Het
Cspp1	A	G	1: 10,104,305	D661G	probably damaging	Het
Dab2	A	G	15: 6,436,993	Q729R	possibly damaging	Het
Dnah9	T	C	11: 66,033,925	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,643,247	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,156,973	V42A	probably benign	Het
Evc	A	G	5: 37,310,237	V566A	probably benign	Het
Fcrls	T	C	3: 87,257,349	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,534,553	R171G	probably damaging	Het
Galnt17	G	A	5: 131,111,823	P152L	probably damaging	Het
Gfi1	A	G	5: 107,721,431	L245P	probably damaging	Het
Heatr4	T	C	12: 83,980,463	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,612,305	N294D	probably benign	Het
Ift74	A	G	4: 94,653,028	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,325,454	V1953I	probably benign	Het
Ikzf5	T	C	7: 131,396,761	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,354,805	T259S	possibly damaging	Het
Itgae	T	A	11: 73,114,926	D305E	probably damaging	Het
Kif23	A	C	9: 61,937,476	D90E	probably benign	Het
Kprp	A	G	3: 92,824,463	F427L	unknown	Het
Lmnb1	T	A	18: 56,731,105	Y261N	probably damaging	Het
Megf8	T	C	7: 25,317,556	V17A	probably benign	Het
Mlh1	T	C	9: 111,236,017		probably null	Het
Mocos	C	A	18: 24,676,629	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,724,754	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,163,130	I197F	possibly damaging	Het
Nefm	A	G	14: 68,123,786	L343P	probably damaging	Het
Nfatc4	A	G	14: 55,832,834		probably benign	Het
Nlrp4a	T	A	7: 26,449,230		probably null	Het
Nlrp4f	A	T	13: 65,194,343	L496*	probably null	Het
Nom1	T	C	5: 29,443,417	F654S	probably damaging	Het
Olfr730	A	T	14: 50,186,847	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,145,586	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,701,617	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pik3ca	C	T	3: 32,436,548	R115*	probably null	Het
Pik3ca	T	C	3: 32,443,885	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,194,595	E218K	possibly damaging	Het
Prex1	G	T	2: 166,601,772	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,197,591	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,536,536	N47K	probably benign	Het
Sec61a2	G	T	2: 5,873,745	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,101,650	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,249,413	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,202,339	I765F	probably damaging	Het
Snap91	A	T	9: 86,879,550	M1K	probably null	Het
Strc	T	C	2: 121,365,111	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,191,451	T207M	possibly damaging	Het
Tchp	T	C	5: 114,709,519		probably null	Het
Tln1	A	T	4: 43,539,668	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,703,620	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,502,793	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,174,312	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,538,286	S673A	possibly damaging	Het
Vta1	G	A	10: 14,705,427		probably benign	Het
Wwc1	T	C	11: 35,875,929	T500A	probably benign	Het
Zfp784	T	A	7: 5,036,117	Q147H	possibly damaging	Het

Other mutations in Mfap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Mfap4	APN	11	61487781	missense	possibly damaging	0.94
IGL01482:Mfap4	APN	11	61487757	missense	probably damaging	1.00
R0512:Mfap4	UTSW	11	61487945	missense	probably damaging	1.00
R0631:Mfap4	UTSW	11	61487180	missense	probably damaging	0.99
R1991:Mfap4	UTSW	11	61485807	critical splice donor site	probably null
R4614:Mfap4	UTSW	11	61485509	unclassified	probably benign
R4616:Mfap4	UTSW	11	61485509	unclassified	probably benign
R4617:Mfap4	UTSW	11	61485509	unclassified	probably benign
R4675:Mfap4	UTSW	11	61485510	unclassified	probably benign
R4987:Mfap4	UTSW	11	61486082	missense	probably benign	0.14
R5381:Mfap4	UTSW	11	61487930	missense	probably benign	0.06
R6173:Mfap4	UTSW	11	61485419	splice site	probably null
R7640:Mfap4	UTSW	11	61487087	missense	probably damaging	1.00
R7695:Mfap4	UTSW	11	61485719	critical splice acceptor site	probably null
R9245:Mfap4	UTSW	11	61487181	missense	probably damaging	1.00
R9558:Mfap4	UTSW	11	61486139	missense	probably benign	0.02
R9681:Mfap4	UTSW	11	61486099	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCCAAGTCTCTGCTGAC -3'
(R):5'- GGGCCAATCCTACGTTACTGAC -3'

Sequencing Primer
(F):5'- AAGTCTCTGCTGACCGGCTG -3'
(R):5'- ACTGATCCTACCCCTTACTG -3'

Posted On

2014-12-04