Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Mfap3l'

183654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfap3l

Ensembl Gene

ENSMUSG00000031647

Gene Name

microfibrillar-associated protein 3-like

Synonyms

5430405D20Rik, NYD-sp9, 4933428A15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

61085861-61129763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61124498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 247 (I247V)

Ref Sequence

ENSEMBL: ENSMUSP00000124330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034066] [ENSMUST00000160719] [ENSMUST00000161421] [ENSMUST00000161702]

AlphaFold

Q9D3X9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034066
AA Change: I247V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034066
Gene: ENSMUSG00000031647
AA Change: I247V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	59	132	5.65e-12	SMART
transmembrane domain	150	172	N/A	INTRINSIC
low complexity region	343	374	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160719
AA Change: I247V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125139
Gene: ENSMUSG00000031647
AA Change: I247V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	59	132	5.65e-12	SMART
transmembrane domain	150	172	N/A	INTRINSIC
low complexity region	343	374	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161421
AA Change: I144V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124136
Gene: ENSMUSG00000031647
AA Change: I144V

Domain	Start	End	E-Value	Type
SCOP:d1biha4	1	39	1e-9	SMART
Blast:IG	1	40	1e-18	BLAST
transmembrane domain	47	69	N/A	INTRINSIC
low complexity region	240	271	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161702
AA Change: I247V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124330
Gene: ENSMUSG00000031647
AA Change: I247V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	59	132	5.65e-12	SMART
transmembrane domain	150	172	N/A	INTRINSIC
low complexity region	343	374	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,401,302 (GRCm39)		probably benign	Het
AI661453	C	A	17: 47,779,442 (GRCm39)		probably benign	Het
Arhgap29	G	A	3: 121,807,977 (GRCm39)	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,577,862 (GRCm39)	S1029P	probably benign	Het
Arpc5l	T	C	2: 38,898,226 (GRCm39)	S7P	probably damaging	Het
Asf1b	A	G	8: 84,682,533 (GRCm39)	I26V	probably benign	Het
Cep95	T	C	11: 106,697,197 (GRCm39)	L240P	probably damaging	Het
Cnmd	A	G	14: 79,879,508 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,180,846 (GRCm39)	N783I	probably damaging	Het
Col6a2	C	A	10: 76,440,676 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,907,607 (GRCm39)		probably null	Het
Cry2	T	C	2: 92,254,977 (GRCm39)	E126G	probably benign	Het
Cxcl15	T	C	5: 90,942,467 (GRCm39)	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,465,952 (GRCm39)	D510G	probably benign	Het
Dct	A	G	14: 118,271,655 (GRCm39)	F392L	probably damaging	Het
Dgkz	A	G	2: 91,764,395 (GRCm39)		probably benign	Het
Dhrs7b	A	G	11: 60,721,541 (GRCm39)	I2V	probably benign	Het
Efnb3	A	T	11: 69,447,730 (GRCm39)		probably null	Het
Fbf1	T	A	11: 116,041,846 (GRCm39)	R565S	probably null	Het
Gimap5	T	C	6: 48,729,727 (GRCm39)	I99T	probably damaging	Het
Gm9912	A	G	3: 148,891,085 (GRCm39)	L16P	unknown	Het
Gpr17	A	G	18: 32,080,187 (GRCm39)	L292P	probably damaging	Het
Hdac10	C	T	15: 89,011,801 (GRCm39)	V129M	probably damaging	Het
Mtus1	A	T	8: 41,537,457 (GRCm39)	S86R	probably damaging	Het
Mylk3	A	G	8: 86,085,890 (GRCm39)	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567 (GRCm39)	C745S	probably damaging	Het
Nudt13	A	T	14: 20,356,385 (GRCm39)	E103D	probably damaging	Het
Or10ag59	A	G	2: 87,405,806 (GRCm39)	Y126C	probably damaging	Het
Or1e35	A	G	11: 73,798,261 (GRCm39)	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,764,687 (GRCm39)	A324S	probably benign	Het
Pofut2	T	C	10: 77,096,515 (GRCm39)	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,286,240 (GRCm39)	D821G	probably damaging	Het
Rnf10	T	A	5: 115,389,161 (GRCm39)	K273*	probably null	Het
Slc4a9	A	G	18: 36,672,828 (GRCm39)	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,751,015 (GRCm39)	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,380,883 (GRCm39)	T159S	probably benign	Het
Tom1l1	G	A	11: 90,540,687 (GRCm39)	P327S	probably damaging	Het
Trim3	A	G	7: 105,267,689 (GRCm39)		probably benign	Het
Trpm6	A	C	19: 18,807,691 (GRCm39)		probably benign	Het
Ttc13	A	C	8: 125,415,621 (GRCm39)	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,713,118 (GRCm39)	V60E	probably damaging	Het
Ung	T	A	5: 114,274,447 (GRCm39)	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294 (GRCm39)	V30A	probably damaging	Het

Other mutations in Mfap3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Mfap3l	APN	8	61,124,943 (GRCm39)	missense	probably benign	0.28
IGL00958:Mfap3l	APN	8	61,124,516 (GRCm39)	missense	probably benign	0.00
R0761:Mfap3l	UTSW	8	61,124,615 (GRCm39)	missense	possibly damaging	0.88
R1888:Mfap3l	UTSW	8	61,124,424 (GRCm39)	missense	possibly damaging	0.94
R1888:Mfap3l	UTSW	8	61,124,424 (GRCm39)	missense	possibly damaging	0.94
R4646:Mfap3l	UTSW	8	61,124,184 (GRCm39)	missense	probably damaging	1.00
R5286:Mfap3l	UTSW	8	61,109,903 (GRCm39)	missense	probably benign	0.19
R5637:Mfap3l	UTSW	8	61,109,821 (GRCm39)	missense	probably damaging	0.98
R6216:Mfap3l	UTSW	8	61,124,841 (GRCm39)	missense	probably damaging	0.97
R7124:Mfap3l	UTSW	8	61,124,303 (GRCm39)	missense	probably damaging	0.97
R7597:Mfap3l	UTSW	8	61,124,315 (GRCm39)	missense	possibly damaging	0.95
R8745:Mfap3l	UTSW	8	61,124,958 (GRCm39)	missense	possibly damaging	0.87
R9118:Mfap3l	UTSW	8	61,109,716 (GRCm39)	missense	probably damaging	0.99
R9296:Mfap3l	UTSW	8	61,124,615 (GRCm39)	missense	possibly damaging	0.88
R9531:Mfap3l	UTSW	8	61,109,787 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07