Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Mfap3'

563156

Institutional Source

Beutler Lab

Gene Symbol

Mfap3

Ensembl Gene

ENSMUSG00000020522

Gene Name

microfibrillar-associated protein 3

Synonyms

2700079M14Rik, 2610509F16Rik

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57409490-57424641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57420582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 188 (K188E)

Ref Sequence

ENSEMBL: ENSMUSP00000020830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020830] [ENSMUST00000108848] [ENSMUST00000108849]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020830
AA Change: K188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020830
Gene: ENSMUSG00000020522
AA Change: K188E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	59	124	7.07e-13	SMART
transmembrane domain	141	163	N/A	INTRINSIC
low complexity region	284	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108848

SMART Domains

Protein: ENSMUSP00000104476
Gene: ENSMUSG00000020522

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1iray2	56	107	4e-4	SMART
Blast:IGc2	59	110	4e-32	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000108849
AA Change: K188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104477
Gene: ENSMUSG00000020522
AA Change: K188E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	59	124	7.07e-13	SMART
transmembrane domain	141	163	N/A	INTRINSIC
low complexity region	284	302	N/A	INTRINSIC

Meta Mutation Damage Score

0.1140

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,382 (GRCm39)	I59T	unknown	Het
Aspm	C	T	1: 139,406,389 (GRCm39)	Q1759*	probably null	Het
Atn1	A	T	6: 124,724,861 (GRCm39)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,911,198 (GRCm39)	V879M	probably benign	Het
Cd300c	A	G	11: 114,850,609 (GRCm39)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,247,005 (GRCm39)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,821,137 (GRCm39)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,210,145 (GRCm39)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,874 (GRCm39)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,011,052 (GRCm39)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,416,166 (GRCm39)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,381,861 (GRCm39)	M538I	probably benign	Het
E4f1	T	A	17: 24,663,299 (GRCm39)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,612,589 (GRCm39)	T64A	unknown	Het
Gnai2	A	C	9: 107,492,972 (GRCm39)	D310E		Het
Iqca1	A	G	1: 89,998,272 (GRCm39)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,409,587 (GRCm39)	N249K	probably benign	Het
Lamc1	A	G	1: 153,110,396 (GRCm39)	V1093A	possibly damaging	Het
N4bp2	T	A	5: 65,951,888 (GRCm39)	V431D	probably damaging	Het
Notch4	A	G	17: 34,795,445 (GRCm39)	T792A	probably benign	Het
Ntn4	A	G	10: 93,581,603 (GRCm39)	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,362,317 (GRCm39)	C202R	probably benign	Het
Or10j2	T	C	1: 173,098,561 (GRCm39)	I273T	probably benign	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or5p55	T	C	7: 107,567,395 (GRCm39)	S264P	probably benign	Het
Or5p72	A	G	7: 108,022,140 (GRCm39)	M121V	probably damaging	Het
Or8b55	A	G	9: 38,727,009 (GRCm39)	D70G	probably benign	Het
Or8g24	A	T	9: 38,989,906 (GRCm39)	M45K	probably damaging	Het
Parpbp	G	A	10: 87,960,802 (GRCm39)	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,896,756 (GRCm39)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,100,830 (GRCm39)	N543S	probably damaging	Het
Puf60	A	G	15: 75,944,388 (GRCm39)		probably benign	Het
Rbm6	A	T	9: 107,730,095 (GRCm39)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,276,436 (GRCm39)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,410,480 (GRCm39)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,322,374 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,299,386 (GRCm39)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,306,861 (GRCm39)	I31S	probably benign	Het
Sipa1l2	A	G	8: 126,196,599 (GRCm39)	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,138,875 (GRCm39)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,696,239 (GRCm39)	N58S	probably benign	Het
Tmc2	C	T	2: 130,076,724 (GRCm39)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,455,544 (GRCm39)	C28R	probably benign	Het
Trbv21	A	T	6: 41,179,892 (GRCm39)	K69N	probably benign	Het
Trpm2	A	G	10: 77,771,710 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,679,334 (GRCm39)	V10796A	unknown	Het
Ush2a	A	G	1: 188,643,858 (GRCm39)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,672,225 (GRCm39)	H726R	probably benign	Het
Zfp777	A	G	6: 48,021,383 (GRCm39)	S80P	probably benign	Het

Other mutations in Mfap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
banshee	UTSW	11	57,420,672 (GRCm39)	missense	probably damaging	1.00
shrill	UTSW	11	57,419,117 (GRCm39)	critical splice donor site	probably null
yowl	UTSW	11	57,420,582 (GRCm39)	missense	probably damaging	1.00
R0479:Mfap3	UTSW	11	57,420,469 (GRCm39)	missense	probably damaging	1.00
R1502:Mfap3	UTSW	11	57,418,975 (GRCm39)	missense	probably benign	0.01
R1861:Mfap3	UTSW	11	57,419,032 (GRCm39)	missense	probably benign	0.31
R1911:Mfap3	UTSW	11	57,420,562 (GRCm39)	missense	probably damaging	1.00
R3111:Mfap3	UTSW	11	57,420,406 (GRCm39)	missense	probably damaging	1.00
R4194:Mfap3	UTSW	11	57,420,529 (GRCm39)	missense	probably damaging	1.00
R4696:Mfap3	UTSW	11	57,419,117 (GRCm39)	critical splice donor site	probably null
R5196:Mfap3	UTSW	11	57,420,639 (GRCm39)	missense	probably damaging	1.00
R6339:Mfap3	UTSW	11	57,420,598 (GRCm39)	missense	probably damaging	1.00
R7120:Mfap3	UTSW	11	57,419,043 (GRCm39)	missense	probably damaging	1.00
R7223:Mfap3	UTSW	11	57,421,066 (GRCm39)	missense	probably benign	0.07
R7423:Mfap3	UTSW	11	57,420,329 (GRCm39)	missense	probably damaging	1.00
R9241:Mfap3	UTSW	11	57,420,672 (GRCm39)	missense	probably damaging	1.00
Z1088:Mfap3	UTSW	11	57,418,968 (GRCm39)	missense	possibly damaging	0.82
Z1186:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1186:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87
Z1187:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1187:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87
Z1188:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1188:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87
Z1189:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1189:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87
Z1190:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1190:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87
Z1191:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1191:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87
Z1192:Mfap3	UTSW	11	57,418,902 (GRCm39)	missense	probably benign
Z1192:Mfap3	UTSW	11	57,418,866 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CCGTGGGCTCTATACATGTATC -3'
(R):5'- ATTTCCTCAACAAAGGCCCG -3'

Sequencing Primer
(F):5'- GTGGGCTCTATACATGTATCATCAC -3'
(R):5'- GCCCGGCAGTTCAGAATAAG -3'

Posted On

2019-06-26