Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Mfap3l'

211897

Institutional Source

Beutler Lab

Gene Symbol

Mfap3l

Ensembl Gene

ENSMUSG00000031647

Gene Name

microfibrillar-associated protein 3-like

Synonyms

5430405D20Rik, NYD-sp9, 4933428A15Rik

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

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

Stock #

R1888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61085861-61129763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61124424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 222 (V222A)

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: V222A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034066
Gene: ENSMUSG00000031647
AA Change: V222A

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: V222A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125139
Gene: ENSMUSG00000031647
AA Change: V222A

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: V119A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124136
Gene: ENSMUSG00000031647
AA Change: V119A

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: V222A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124330
Gene: ENSMUSG00000031647
AA Change: V222A

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: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,960,030 (GRCm39)	M80T	unknown	Het
4930578I06Rik	A	G	14: 64,223,632 (GRCm39)	L48P	probably damaging	Het
Abcc9	A	G	6: 142,625,040 (GRCm39)	S452P	probably benign	Het
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,737,896 (GRCm39)		probably null	Het
Adgrl4	A	G	3: 151,144,914 (GRCm39)	N21S	probably benign	Het
Adss2	A	T	1: 177,612,517 (GRCm39)	Y77*	probably null	Het
Ahnak	A	T	19: 8,984,452 (GRCm39)	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,740,325 (GRCm39)	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Bbs12	C	A	3: 37,374,712 (GRCm39)	L387I	probably damaging	Het
Ciita	T	C	16: 10,328,948 (GRCm39)	Y411H	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clec9a	G	A	6: 129,387,249 (GRCm39)	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,082 (GRCm39)	Q382L	possibly damaging	Het
Cracdl	T	C	1: 37,663,364 (GRCm39)	K845E	possibly damaging	Het
Dock2	A	T	11: 34,598,169 (GRCm39)	I334N	probably damaging	Het
Dock9	G	T	14: 121,862,617 (GRCm39)	T833K	probably benign	Het
Drd2	G	A	9: 49,313,442 (GRCm39)	V204I	probably benign	Het
Fam120a	A	T	13: 49,039,342 (GRCm39)	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,990,621 (GRCm39)	E1025G	unknown	Het
Fsip2	G	A	2: 82,774,504 (GRCm39)	D64N	probably benign	Het
Gm14496	T	A	2: 181,641,989 (GRCm39)	C553*	probably null	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Hmcn1	C	G	1: 150,695,251 (GRCm39)	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,115,217 (GRCm39)	F22S	probably damaging	Het
Il5ra	T	A	6: 106,708,874 (GRCm39)	N289Y	probably damaging	Het
Irf2	A	T	8: 47,260,388 (GRCm39)	R107*	probably null	Het
Kcnk6	T	C	7: 28,925,075 (GRCm39)	I180M	probably benign	Het
Krtap5-3	G	A	7: 141,755,979 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,631,859 (GRCm39)	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,389,587 (GRCm39)	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,629,217 (GRCm39)	V521A	probably benign	Het
Macf1	T	G	4: 123,348,835 (GRCm39)	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,368,505 (GRCm39)	E2085D	probably benign	Het
Maml1	C	T	11: 50,157,468 (GRCm39)	A236T	probably benign	Het
Mdc1	C	A	17: 36,165,117 (GRCm39)	T1481K	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mpped2	T	C	2: 106,529,790 (GRCm39)	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,056,528 (GRCm39)	T948K	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mtx3	A	G	13: 92,984,191 (GRCm39)	E156G	probably benign	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myh2	G	A	11: 67,071,676 (GRCm39)	V498M	probably damaging	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,799,562 (GRCm39)		probably null	Het
Ndufa2	T	A	18: 36,877,573 (GRCm39)		probably benign	Het
Nipal2	T	C	15: 34,625,167 (GRCm39)	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,669,926 (GRCm39)	N507S	possibly damaging	Het
Or4b12	A	G	2: 90,095,913 (GRCm39)	L287P	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,620,438 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,508,677 (GRCm39)	M1T	probably null	Het
Pla2g2d	T	C	4: 138,503,126 (GRCm39)	M1T	probably null	Het
Plekhg6	T	C	6: 125,340,306 (GRCm39)	T685A	probably damaging	Het
Pramel19	T	A	4: 101,798,335 (GRCm39)	V102E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pxk	T	C	14: 8,151,540 (GRCm38)	S452P	probably damaging	Het
Rab42	A	T	4: 132,030,529 (GRCm39)	D40E	probably benign	Het
Rapgef6	A	C	11: 54,551,654 (GRCm39)	T836P	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Sntb1	T	A	15: 55,612,745 (GRCm39)	R278*	probably null	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Stk40	T	A	4: 126,019,538 (GRCm39)	L90Q	probably damaging	Het
Syk	A	G	13: 52,794,826 (GRCm39)	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,704,224 (GRCm39)	V170M	possibly damaging	Het
Tcf12	A	T	9: 71,765,816 (GRCm39)	D541E	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tlr4	T	C	4: 66,759,409 (GRCm39)	V734A	probably damaging	Het
Tmem132a	T	C	19: 10,840,863 (GRCm39)	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,712,044 (GRCm39)	I112T	probably benign	Het
Tril	A	G	6: 53,796,577 (GRCm39)	L215P	probably damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Ttn	G	A	2: 76,623,151 (GRCm39)	P15429S	probably damaging	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Tubgcp2	A	G	7: 139,579,183 (GRCm39)	V701A	probably damaging	Het
Tubgcp2	A	G	7: 139,586,069 (GRCm39)	F407L	probably damaging	Het
Vmn1r30	A	C	6: 58,412,475 (GRCm39)	L119R	possibly damaging	Het
Washc5	A	C	15: 59,231,174 (GRCm39)	L363R	probably damaging	Het
Zan	T	C	5: 137,387,590 (GRCm39)	T4874A	unknown	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,230,235 (GRCm39)	R497L	probably damaging	Het
Zmat4	A	G	8: 24,505,177 (GRCm39)	N139S	probably damaging	Het
Zng1	A	T	19: 24,932,769 (GRCm39)	V88D	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCTTCACCATAGTCATGATC -3'
(R):5'- ACTTCGCTTCAGTGAGTTGG -3'

Sequencing Primer
(F):5'- TTCACCATAGTCATGATCCTCAAC -3'
(R):5'- GGGATGGTGTATACCTCGTCCC -3'

Posted On

2014-06-30