Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Mfap4'

57982

Institutional Source

Beutler Lab

Gene Symbol

Mfap4

Ensembl Gene

ENSMUSG00000042436

Gene Name

microfibrillar-associated protein 4

Synonyms

1110007F23Rik

MMRRC Submission

038820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61376257-61379536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61378006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 173 (F173L)

Ref Sequence

ENSEMBL: ENSMUSP00000038971 (fasta)

Gene Model

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

AlphaFold

Q9D1H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040522
AA Change: F173L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436
AA Change: F173L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000064783
AA Change: F149L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436
AA Change: F149L

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: ENSMUST00000139932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128478

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

Meta Mutation Damage Score

0.8428

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,982,479 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,904,517 (GRCm39)	E594G	probably benign	Het
Ak8	T	G	2: 28,625,677 (GRCm39)	I240S	probably damaging	Het
Akap13	T	C	7: 75,264,744 (GRCm39)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,017,095 (GRCm39)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,831,697 (GRCm39)	I36F	probably damaging	Het
Antxrl	T	A	14: 33,780,758 (GRCm39)		probably null	Het
Arhgef2	G	C	3: 88,541,743 (GRCm39)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,416,481 (GRCm39)	I1098T	unknown	Het
Atr	T	C	9: 95,756,830 (GRCm39)	V903A	possibly damaging	Het
B3gnt6	C	A	7: 97,842,899 (GRCm39)	A354S	probably benign	Het
Bnc1	A	T	7: 81,624,114 (GRCm39)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,823,659 (GRCm39)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,274,331 (GRCm39)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,443,752 (GRCm39)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,012,384 (GRCm39)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,627,914 (GRCm39)		probably null	Het
Cd177	T	C	7: 24,456,111 (GRCm39)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,538,667 (GRCm39)	Y497*	probably null	Het
Chmp2a	T	C	7: 12,766,371 (GRCm39)	E107G	probably damaging	Het
Chrna2	T	G	14: 66,386,757 (GRCm39)	V301G	probably benign	Het
Chrna7	A	G	7: 62,749,391 (GRCm39)	C364R	probably benign	Het
Cltc	G	T	11: 86,603,439 (GRCm39)	L796I	probably benign	Het
Col12a1	T	C	9: 79,610,658 (GRCm39)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,723,129 (GRCm39)	Q270*	probably null	Het
Col6a1	C	T	10: 76,545,569 (GRCm39)	V968M	probably benign	Het
Copb1	C	A	7: 113,832,517 (GRCm39)	V511F	probably benign	Het
Daw1	C	G	1: 83,174,981 (GRCm39)	S160R	probably damaging	Het
Ddx46	A	G	13: 55,787,590 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,552,332 (GRCm39)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 130,699,383 (GRCm39)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,280,152 (GRCm39)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Edc4	C	A	8: 106,617,424 (GRCm39)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,726,278 (GRCm39)	K129M	probably damaging	Het
Emx2	A	G	19: 59,452,460 (GRCm39)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,896,449 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,394,400 (GRCm39)	K507E	probably benign	Het
Fanci	T	A	7: 79,055,953 (GRCm39)	V195E	probably damaging	Het
Fgfr2	T	G	7: 129,828,969 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,890,402 (GRCm39)	S1007P	probably damaging	Het
Fry	T	C	5: 150,419,817 (GRCm39)	I993T	possibly damaging	Het
Fst	A	G	13: 114,591,038 (GRCm39)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,009 (GRCm39)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Gja3	T	C	14: 57,274,219 (GRCm39)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,161,313 (GRCm39)	D74G	unknown	Het
Gm12689	G	T	4: 99,184,258 (GRCm39)	G37V	unknown	Het
Gm5424	C	T	10: 61,907,313 (GRCm39)		noncoding transcript	Het
Hephl1	T	C	9: 14,995,820 (GRCm39)	E434G	probably benign	Het
Hoatz	T	A	9: 51,013,253 (GRCm39)	R6S	probably benign	Het
Htatip2	T	C	7: 49,423,059 (GRCm39)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,936,161 (GRCm39)		probably null	Het
Ints2	T	C	11: 86,124,022 (GRCm39)	I589V	probably benign	Het
Itgae	T	A	11: 73,005,733 (GRCm39)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,559,852 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,401,565 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,932,364 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,128,667 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,144,883 (GRCm39)	T406A	probably benign	Het
Litaf	A	T	16: 10,784,276 (GRCm39)		probably benign	Het
Lmntd1	T	A	6: 145,375,726 (GRCm39)	I71F	probably benign	Het
Lrit3	A	C	3: 129,582,204 (GRCm39)	C594W	probably damaging	Het
Lrp6	T	A	6: 134,456,738 (GRCm39)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,605,179 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,349,317 (GRCm39)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,437,684 (GRCm39)	T249A	possibly damaging	Het
Mfsd9	C	A	1: 40,829,634 (GRCm39)		probably benign	Het
Mgat4b	T	C	11: 50,121,590 (GRCm39)	S69P	probably damaging	Het
Mki67	A	T	7: 135,306,117 (GRCm39)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,128,852 (GRCm39)	T201I	probably damaging	Het
Msh4	G	C	3: 153,572,057 (GRCm39)	D774E	probably benign	Het
Myg1	C	T	15: 102,240,284 (GRCm39)	R37C	probably benign	Het
Myrf	C	A	19: 10,206,246 (GRCm39)	A57S	probably benign	Het
Ndst1	G	A	18: 60,833,431 (GRCm39)		probably benign	Het
Nedd4l	A	T	18: 65,341,574 (GRCm39)		probably benign	Het
Neil2	T	A	14: 63,420,849 (GRCm39)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,432,035 (GRCm39)	D26V	probably benign	Het
Nt5c	A	G	11: 115,381,540 (GRCm39)		probably null	Het
Or13a24	T	G	7: 140,154,420 (GRCm39)	M118R	probably damaging	Het
Or2w1b	G	T	13: 21,300,078 (GRCm39)	C72F	probably damaging	Het
Or2z8	T	A	8: 72,812,166 (GRCm39)	I214N	probably damaging	Het
Or5ac20	A	G	16: 59,104,570 (GRCm39)	C97R	possibly damaging	Het
Or5t15	T	C	2: 86,681,311 (GRCm39)	T244A	probably benign	Het
Ovch2	A	G	7: 107,381,228 (GRCm39)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,255,202 (GRCm39)	S262P	probably benign	Het
Pla2g6	T	A	15: 79,190,596 (GRCm39)	H322L	probably damaging	Het
Plch1	A	T	3: 63,606,640 (GRCm39)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 106,105,934 (GRCm39)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,196,876 (GRCm39)	D747G	possibly damaging	Het
Poln	C	A	5: 34,276,302 (GRCm39)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,173,873 (GRCm39)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 55,114,073 (GRCm39)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,894,165 (GRCm39)	P135S	probably benign	Het
Ptgs2	G	A	1: 149,980,288 (GRCm39)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,415,200 (GRCm39)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm39)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,276,138 (GRCm39)	I84T	probably damaging	Het
Rab44	A	G	17: 29,358,118 (GRCm39)	D102G	possibly damaging	Het
Rimoc1	A	G	15: 4,015,971 (GRCm39)		probably benign	Het
Rnf125	A	T	18: 21,112,140 (GRCm39)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,450,851 (GRCm39)	F392L	probably damaging	Het
Rttn	A	G	18: 89,007,670 (GRCm39)	N435S	probably benign	Het
Scn8a	A	G	15: 100,933,418 (GRCm39)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,432,989 (GRCm39)		probably benign	Het
Sgsm3	A	T	15: 80,895,937 (GRCm39)	*751C	probably null	Het
Slc35c2	A	C	2: 165,122,849 (GRCm39)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,570,280 (GRCm39)		probably benign	Het
Snapc3	T	A	4: 83,336,039 (GRCm39)	V17D	probably damaging	Het
Snta1	G	T	2: 154,218,992 (GRCm39)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,790,014 (GRCm39)	D1334G	probably benign	Het
Stard5	A	G	7: 83,281,965 (GRCm39)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,660,102 (GRCm39)	N731I	probably benign	Het
Tmem135	T	A	7: 88,792,996 (GRCm39)	K413*	probably null	Het
Tmem38a	G	A	8: 73,333,862 (GRCm39)	V114I	probably benign	Het
Tpr	A	G	1: 150,298,282 (GRCm39)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,540,066 (GRCm39)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Tuba3b	A	G	6: 145,565,302 (GRCm39)	T257A	probably damaging	Het
Tubgcp6	A	C	15: 88,985,190 (GRCm39)	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,804,644 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm39)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 85,812,478 (GRCm39)	S514C	probably null	Het
Whrn	G	A	4: 63,337,726 (GRCm39)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 58,095,097 (GRCm39)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm39)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,487,083 (GRCm39)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,263,872 (GRCm39)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 123,063,613 (GRCm39)		probably benign	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
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
R6173:Mfap4	UTSW	11	61,376,245 (GRCm39)	splice site	probably null
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'- TCAGCAGCAGATGTTCAATGAGAGG -3'
(R):5'- ACTGCCCCTGAAGAAGTTGAGAGAG -3'

Sequencing Primer
(F):5'- AGGGTACTGGACCTCCATCATC -3'
(R):5'- CCAGCCACGTAGAGGGTATA -3'

Posted On

2013-07-11