Mutagenetix > Incidental Mutation

Incidental Mutation 'R6644:Mfap5'

525997

Institutional Source

Beutler Lab

Gene Symbol

Mfap5

Ensembl Gene

ENSMUSG00000030116

Gene Name

microfibrillar associated protein 5

Synonyms

MAGP-2

MMRRC Submission

044765-MU

Accession Numbers

Essential gene?

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

Stock #

R6644 (G1)

Quality Score

133.008

Status

Validated

Chromosome

Chromosomal Location

122490543-122506249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122497555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 26 (F26L)

Ref Sequence

ENSEMBL: ENSMUSP00000116769 (fasta)

Gene Model

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

AlphaFold

Q9QZJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032210
AA Change: F38L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: F38L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118626
AA Change: F38L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: F38L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121656

SMART Domains

Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126357

Predicted Effect

probably damaging
Transcript: ENSMUST00000142896
AA Change: F26L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: F26L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000148517
AA Change: F38L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: F38L

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	T	10: 79,844,598 (GRCm39)	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,321,472 (GRCm39)	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,816,671 (GRCm39)	V772M	possibly damaging	Het
Apob	A	G	12: 8,059,077 (GRCm39)	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,007,662 (GRCm39)		probably null	Het
Cabp7	C	T	11: 4,690,396 (GRCm39)	V76I	probably benign	Het
Cbr3	A	G	16: 93,487,399 (GRCm39)	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,049,807 (GRCm39)	Q58*	probably null	Het
Cryba4	T	C	5: 112,394,628 (GRCm39)	D167G	probably damaging	Het
Czib	T	G	4: 107,752,119 (GRCm39)	I130S	probably damaging	Het
Dner	T	C	1: 84,373,428 (GRCm39)	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,147,737 (GRCm39)	I343V	probably benign	Het
Eif1ad16	A	G	12: 87,985,460 (GRCm39)	F28L	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxw17	G	A	13: 50,577,255 (GRCm39)	R49Q	probably damaging	Het
Garin2	T	A	12: 78,762,060 (GRCm39)	D241E	probably damaging	Het
Gm10332	T	A	14: 55,057,616 (GRCm39)	F59I	probably damaging	Het
Gnai3	A	G	3: 108,030,852 (GRCm39)		probably null	Het
Helz	T	A	11: 107,523,087 (GRCm39)	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 62,854,672 (GRCm39)		probably benign	Het
Ifi211	C	T	1: 173,733,118 (GRCm39)	C181Y	probably benign	Het
Immp1l	A	G	2: 105,767,390 (GRCm39)	K83R	probably damaging	Het
Itga6	G	A	2: 71,671,468 (GRCm39)	G740R	probably damaging	Het
Klhl1	T	C	14: 96,755,354 (GRCm39)	T134A	probably benign	Het
Klhl7	A	G	5: 24,354,244 (GRCm39)	D353G	probably damaging	Het
Map3k1	A	G	13: 111,888,983 (GRCm39)	S1325P	probably benign	Het
Map3k4	A	G	17: 12,451,297 (GRCm39)		probably null	Het
Meioc	G	A	11: 102,559,286 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,054,249 (GRCm39)	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,164,013 (GRCm39)	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,164,014 (GRCm39)	L1266M	probably damaging	Het
Or4c116	A	G	2: 88,942,325 (GRCm39)	M177T	probably benign	Het
Or51aa2	C	A	7: 103,188,265 (GRCm39)	V59F	possibly damaging	Het
Pbld1	T	A	10: 62,910,842 (GRCm39)	S233T	probably damaging	Het
Phf12	A	G	11: 77,916,918 (GRCm39)	*789W	probably null	Het
Sf3b2	A	T	19: 5,329,992 (GRCm39)		probably null	Het
Slc23a3	A	G	1: 75,105,191 (GRCm39)	I459T	probably damaging	Het
Spata31e4	A	G	13: 50,856,071 (GRCm39)	T570A	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stard9	A	C	2: 120,526,253 (GRCm39)	M837L	probably benign	Het
Stx5a	A	T	19: 8,732,612 (GRCm39)		probably benign	Het
Tmc7	A	G	7: 118,137,385 (GRCm39)	V719A	probably benign	Het
Trank1	T	A	9: 111,193,902 (GRCm39)	I642K	possibly damaging	Het
Trim34a	T	C	7: 103,910,244 (GRCm39)	Y349H	probably damaging	Het
Uba7	A	G	9: 107,858,671 (GRCm39)	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,092,530 (GRCm39)	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,722,283 (GRCm39)	V343A	possibly damaging	Het
Zbtb37	G	A	1: 160,859,643 (GRCm39)	Q221*	probably null	Het
Zfp119b	T	C	17: 56,246,148 (GRCm39)	N346S	probably benign	Het
Zfp708	G	T	13: 67,218,785 (GRCm39)	T358K	possibly damaging	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
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
R7548:Mfap5	UTSW	6	122,502,993 (GRCm39)	missense	probably benign	0.07
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'- GGAGCTTAGCAAGGCAAATC -3'
(R):5'- GGGTAAAGACAGCTGGACTC -3'

Sequencing Primer
(F):5'- TTAGCAAGGCAAATCTCCCTGG -3'
(R):5'- GCTGGACTCAGGCAAACCAG -3'

Posted On

2018-06-22