Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:Mfap3l'

440444

Institutional Source

Beutler Lab

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 #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61085861-61129763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61109821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 66 (I66F)

Ref Sequence

ENSEMBL: ENSMUSP00000124330 (fasta)

Gene Model

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

AlphaFold

Q9D3X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034066
AA Change: I66F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034066
Gene: ENSMUSG00000031647
AA Change: I66F

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

probably damaging
Transcript: ENSMUST00000160719
AA Change: I66F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125139
Gene: ENSMUSG00000031647
AA Change: I66F

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

probably benign
Transcript: ENSMUST00000161421

SMART Domains

Protein: ENSMUSP00000124136
Gene: ENSMUSG00000031647

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

probably damaging
Transcript: ENSMUST00000161702
AA Change: I66F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124330
Gene: ENSMUSG00000031647
AA Change: I66F

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arfip2	A	G	7: 105,286,370 (GRCm39)	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ash2l	T	C	8: 26,317,339 (GRCm39)	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Dusp4	C	A	8: 35,284,451 (GRCm39)	H255Q	probably damaging	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
F12	T	C	13: 55,570,228 (GRCm39)	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,304,731 (GRCm39)		probably null	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	probably damaging	Het
Zw10	T	C	9: 48,968,950 (GRCm39)	V38A	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
IGL01995:Mfap3l	APN	8	61,124,498 (GRCm39)	missense	possibly damaging	0.59
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
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

Predicted Primers

PCR Primer
(F):5'- CATCTCTGGCCTTACGGAACAAG -3'
(R):5'- ACCACTCACGTTAAGGGTATG -3'

Sequencing Primer
(F):5'- TCAGAAGAGCCATCTGACTGTGTG -3'
(R):5'- CACTCACGTTAAGGGTATGGGCTC -3'

Posted On

2016-11-08