Mutagenetix > Incidental Mutation

Incidental Mutation 'R3796:Mfap1b'

272750

Institutional Source

Beutler Lab

Gene Symbol

Mfap1b

Ensembl Gene

ENSMUSG00000048222

Gene Name

microfibrillar-associated protein 1B

Synonyms

MMRRC Submission

040757-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R3796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121460235-121474067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121473905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000049548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056732]

AlphaFold

C0HKD8
C0HKD9

Predicted Effect

probably benign
Transcript: ENSMUST00000056732
AA Change: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049548
Gene: ENSMUSG00000048222
AA Change: V3A

Domain	Start	End	E-Value	Type
low complexity region	51	59	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC
coiled coil region	134	150	N/A	INTRINSIC
Pfam:MFAP1	190	399	1.6e-81	PFAM

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,921,610		probably benign	Het
Adamts17	A	G	7: 66,839,914		probably null	Het
Alpk3	C	A	7: 81,092,753	P773T	probably benign	Het
Alppl2	A	G	1: 87,088,354		probably null	Het
Basp1	C	A	15: 25,364,312		probably benign	Het
Clec14a	G	A	12: 58,267,909	A309V	probably benign	Het
Clk2	A	G	3: 89,175,689	N424S	probably benign	Het
Cops7a	C	T	6: 124,959,832	R252H	probably damaging	Het
Csmd2	C	T	4: 128,517,595	P2469S	probably benign	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Dnajc16	G	T	4: 141,767,737	D521E	probably benign	Het
Dnm2	T	C	9: 21,505,487	V772A	probably benign	Het
Dst	G	T	1: 34,181,915	V2267F	probably benign	Het
Eif3d	A	G	15: 77,968,569	F4S	probably damaging	Het
Fgfr1	G	A	8: 25,572,437	D663N	probably damaging	Het
Hmcn1	A	G	1: 150,586,418	Y5170H	probably damaging	Het
Kcna2	T	A	3: 107,105,590	L496I	probably benign	Het
Krt8	T	C	15: 101,999,442	I233V	probably benign	Het
Phrf1	C	T	7: 141,259,918	R243*	probably null	Het
Plbd2	A	T	5: 120,492,868	I224N	probably damaging	Het
Rab19	T	C	6: 39,384,041	V41A	probably benign	Het
Rrm1	T	A	7: 102,465,703		probably null	Het
Sacs	T	C	14: 61,206,121	V1872A	possibly damaging	Het
Setd2	T	C	9: 110,549,571	V818A	probably benign	Het
Shprh	C	T	10: 11,178,757	L1037F	possibly damaging	Het
Slc24a3	A	G	2: 145,616,681	D527G	probably damaging	Het
Slc27a6	T	C	18: 58,598,751		probably benign	Het
Slc35g3	A	G	11: 69,760,917	F103L	probably benign	Het
Slc5a1	A	G	5: 33,152,652	D408G	probably damaging	Het
Spag6l	A	T	16: 16,763,052	I477N	probably damaging	Het
Srgap1	A	G	10: 122,047,132	V21A	probably benign	Het
Trim7	A	G	11: 48,845,670		probably null	Het
Trpa1	T	C	1: 14,893,264	N578S	possibly damaging	Het
Xdh	T	C	17: 73,907,658	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,915,310	V1228F	probably damaging	Het

Other mutations in Mfap1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5396:Mfap1b	UTSW	2	121473890	missense	probably benign	0.00
R5992:Mfap1b	UTSW	2	121470295	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCAGCTAGGTTTTAAGGGCC -3'
(R):5'- AAGCTAGCCCTTTAAGCGATCAG -3'

Sequencing Primer
(F):5'- TTTTAAGGGCCAGCCGAG -3'
(R):5'- CAATTACCCACAATCCTCTGTTATG -3'

Posted On

2015-03-25