Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Mfap5'

584308

Institutional Source

Beutler Lab

Gene Symbol

Mfap5

Ensembl Gene

ENSMUSG00000030116

Gene Name

microfibrillar associated protein 5

Synonyms

MAGP-2

MMRRC Submission

045619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122490543-122506249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122502993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 102 (T102S)

Ref Sequence

ENSEMBL: ENSMUSP00000122863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]

AlphaFold

Q9QZJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000032210
AA Change: T90S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: T90S

Domain	Start	End	E-Value	Type
Pfam:MAGP	2	117	1.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118626
AA Change: T94S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: T94S

Domain	Start	End	E-Value	Type
Pfam:MAGP	2	121	3.5e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121656
AA Change: T68S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116
AA Change: T68S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MAGP	31	69	8.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142896
AA Change: T90S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: T90S

Domain	Start	End	E-Value	Type
Pfam:MAGP	2	117	9.8e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148517
AA Change: T102S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: T102S

Domain	Start	End	E-Value	Type
Pfam:MAGP	3	129	1.3e-60	PFAM

Meta Mutation Damage Score

0.3898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,016,059 (GRCm39)	S146N	possibly damaging	Het
Acr	T	C	15: 89,458,596 (GRCm39)	S426P	possibly damaging	Het
Arl6ip1	A	T	7: 117,725,733 (GRCm39)	I59N	probably damaging	Het
Atp2b4	A	T	1: 133,629,379 (GRCm39)	*81K	probably null	Het
Atp8a1	T	A	5: 67,973,071 (GRCm39)	R26*	probably null	Het
Atp8b4	T	A	2: 126,231,262 (GRCm39)	Q453L	probably benign	Het
B4galt4	A	G	16: 38,574,428 (GRCm39)	E134G	probably damaging	Het
Bcl9	G	A	3: 97,113,209 (GRCm39)	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,409,251 (GRCm39)	F617L	probably benign	Het
Ccdc15	T	C	9: 37,188,723 (GRCm39)	N800S	probably benign	Het
Cd300ld	T	C	11: 114,878,248 (GRCm39)	D88G	probably benign	Het
Ceacam2	A	T	7: 25,229,958 (GRCm39)	V216E	probably benign	Het
Cecr2	T	A	6: 120,738,675 (GRCm39)	M356K		Het
Cenpm	T	C	15: 82,128,880 (GRCm39)	M1V	probably null	Het
Ces2e	A	G	8: 105,658,538 (GRCm39)	E401G	probably benign	Het
Cib3	C	A	8: 72,961,041 (GRCm39)	L65F	probably damaging	Het
Clip4	C	G	17: 72,096,963 (GRCm39)	T29R	probably benign	Het
Cnot7	A	G	8: 40,953,874 (GRCm39)	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,415 (GRCm39)		probably null	Het
Col11a1	A	C	3: 113,917,409 (GRCm39)	H732P	unknown	Het
Coq4	A	T	2: 29,685,420 (GRCm39)	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,098,989 (GRCm39)	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,923,735 (GRCm39)	I303V	probably damaging	Het
Dab2	C	T	15: 6,459,399 (GRCm39)	T437I	possibly damaging	Het
Dlc1	A	G	8: 37,051,809 (GRCm39)	S190P	probably benign	Het
Dnah6	G	A	6: 73,004,423 (GRCm39)	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,877,838 (GRCm39)	E411G	probably benign	Het
Dpp8	T	C	9: 64,944,517 (GRCm39)	Y95H	probably damaging	Het
Emb	T	A	13: 117,408,590 (GRCm39)	D310E	possibly damaging	Het
Eml4	C	A	17: 83,732,766 (GRCm39)	Q140K	probably benign	Het
Epb41l3	T	C	17: 69,517,271 (GRCm39)	S100P	probably damaging	Het
Fat4	A	T	3: 39,035,263 (GRCm39)	T2972S	probably benign	Het
Fignl2	T	C	15: 100,951,079 (GRCm39)	E401G	unknown	Het
Fryl	T	A	5: 73,349,105 (GRCm39)	D19V	unknown	Het
Gck	C	T	11: 5,852,040 (GRCm39)	G16R		Het
Gm3371	T	C	14: 44,648,145 (GRCm39)	M1V	probably null	Het
Hlcs	T	A	16: 93,933,876 (GRCm39)	K661*	probably null	Het
Il17re	C	G	6: 113,443,348 (GRCm39)	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601 (GRCm39)	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,272,907 (GRCm39)	I605T	probably damaging	Het
Krt31	T	C	11: 99,940,346 (GRCm39)	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,287,669 (GRCm39)	D126G	probably benign	Het
Lig1	T	A	7: 13,035,344 (GRCm39)	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,484,471 (GRCm39)	I384T	probably damaging	Het
Mfsd6	A	G	1: 52,702,446 (GRCm39)	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,149,604 (GRCm39)	E404K	probably damaging	Het
Nme3	T	C	17: 25,115,522 (GRCm39)	L12P	probably damaging	Het
Nxpe5	A	T	5: 138,249,493 (GRCm39)	T428S	probably benign	Het
Or1e26	G	A	11: 73,479,802 (GRCm39)	T254I	possibly damaging	Het
Or4c122	T	C	2: 89,079,430 (GRCm39)	T191A	probably benign	Het
Prr5	C	A	15: 84,641,259 (GRCm39)	P175Q	possibly damaging	Het
Psmc6	T	C	14: 45,572,375 (GRCm39)	Y110H	probably benign	Het
Pthlh	T	A	6: 147,158,653 (GRCm39)	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,783,736 (GRCm39)	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,001,871 (GRCm39)	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,279,792 (GRCm39)	Y392H	probably benign	Het
Sag	G	A	1: 87,772,638 (GRCm39)	V369I	probably benign	Het
Sar1b	A	G	11: 51,680,094 (GRCm39)	E140G	probably benign	Het
Sema3d	T	A	5: 12,627,783 (GRCm39)	M658K	unknown	Het
Skor2	C	T	18: 76,948,600 (GRCm39)	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,650,265 (GRCm39)	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,864,468 (GRCm39)	M539V	probably benign	Het
Spocd1	T	C	4: 129,823,602 (GRCm39)	L133P		Het
Sptlc1	A	T	13: 53,521,968 (GRCm39)	N96K	possibly damaging	Het
Stox1	A	T	10: 62,501,946 (GRCm39)	S205T	probably damaging	Het
Tec	T	C	5: 72,917,693 (GRCm39)	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,940,816 (GRCm39)	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,751,309 (GRCm39)	C120R	probably damaging	Het
Usp39	C	T	6: 72,321,996 (GRCm39)	S46N	possibly damaging	Het
Zbtb5	T	C	4: 44,994,724 (GRCm39)	E220G	probably benign	Het
Zfp287	A	T	11: 62,604,701 (GRCm39)	C735*	probably null	Het

Other mutations in Mfap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Mfap5	APN	6	122,502,975 (GRCm39)	missense	probably damaging	0.97
IGL02348:Mfap5	APN	6	122,503,746 (GRCm39)	missense	possibly damaging	0.95
R0094:Mfap5	UTSW	6	122,502,951 (GRCm39)	missense	probably damaging	0.98
R0094:Mfap5	UTSW	6	122,502,951 (GRCm39)	missense	probably damaging	0.98
R0827:Mfap5	UTSW	6	122,497,879 (GRCm39)	missense	probably damaging	0.98
R1279:Mfap5	UTSW	6	122,503,722 (GRCm39)	splice site	probably null
R2519:Mfap5	UTSW	6	122,502,948 (GRCm39)	missense	probably damaging	1.00
R5947:Mfap5	UTSW	6	122,502,945 (GRCm39)	missense	probably damaging	1.00
R6644:Mfap5	UTSW	6	122,497,555 (GRCm39)	missense	probably damaging	0.99
R7296:Mfap5	UTSW	6	122,505,381 (GRCm39)	missense	probably benign	0.01
R7479:Mfap5	UTSW	6	122,503,821 (GRCm39)	critical splice donor site	probably null
R7820:Mfap5	UTSW	6	122,497,880 (GRCm39)	missense	probably damaging	0.99
R8270:Mfap5	UTSW	6	122,498,889 (GRCm39)	critical splice donor site	probably null
R9052:Mfap5	UTSW	6	122,501,463 (GRCm39)	missense	probably benign	0.37
X0064:Mfap5	UTSW	6	122,491,344 (GRCm39)	missense	probably null	0.12

Predicted Primers

PCR Primer
(F):5'- ATGTGAGTTAGCTTCCTCTCCA -3'
(R):5'- TTCAACCCAGACTCCAGGCT -3'

Sequencing Primer
(F):5'- CCATCTGTTTTTGGCAAGCAAGAG -3'
(R):5'- AGACTCCAGGCTCTAGGCAG -3'

Posted On

2019-10-17