Mutagenetix > Incidental Mutation

Incidental Mutation 'R0096:BC005537'

64080

Institutional Source

Beutler Lab

Gene Symbol

BC005537

Ensembl Gene

ENSMUSG00000019132

Gene Name

cDNA sequence BC005537

Synonyms

8030460C05Rik

MMRRC Submission

038382-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R0096 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

24985640-24996882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24989923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 129 (F129L)

Ref Sequence

ENSEMBL: ENSMUSP00000019276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019276] [ENSMUST00000155575]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019276
AA Change: F129L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019276
Gene: ENSMUSG00000019132
AA Change: F129L

Domain	Start	End	E-Value	Type
Pfam:DUF4566	1	226	5.9e-142	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155575
AA Change: F100L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123652
Gene: ENSMUSG00000019132
AA Change: F100L

Domain	Start	End	E-Value	Type
Pfam:DUF4566	10	167	1.6e-102	PFAM

Meta Mutation Damage Score

0.7551

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamts3	G	A	5: 89,849,576 (GRCm39)	Q615*	probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Anks1b	T	C	10: 89,909,924 (GRCm39)	S48P	possibly damaging	Het
Aoc1l2	A	C	6: 48,908,122 (GRCm39)	Q374P	probably damaging	Het
Arfip2	T	A	7: 105,287,437 (GRCm39)	K94N	probably damaging	Het
Arhgap42	G	T	9: 9,009,314 (GRCm39)	N524K	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Arid4b	T	C	13: 14,303,779 (GRCm39)	V68A	probably benign	Het
Capn3	A	T	2: 120,333,010 (GRCm39)	H592L	possibly damaging	Het
Dglucy	A	T	12: 100,804,910 (GRCm39)	I134F	possibly damaging	Het
Dhh	T	A	15: 98,791,869 (GRCm39)	M380L	probably benign	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dthd1	A	T	5: 63,000,383 (GRCm39)	R568S	possibly damaging	Het
Efr3a	A	G	15: 65,727,290 (GRCm39)	N613S	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Fam120c	CCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCA	X: 150,127,341 (GRCm39)		probably benign	Het
Fbrs	C	T	7: 127,088,659 (GRCm39)	A145V	probably damaging	Het
Gm4736	T	C	6: 132,092,569 (GRCm39)		noncoding transcript	Het
Gm9873	A	T	2: 168,863,029 (GRCm39)		noncoding transcript	Het
Grik1	T	C	16: 87,831,114 (GRCm39)	M219V	possibly damaging	Het
Gtsf1l	C	T	2: 162,929,456 (GRCm39)	C9Y	probably damaging	Het
Itih5	G	A	2: 10,256,189 (GRCm39)	R885Q	probably benign	Het
Kdm4c	A	G	4: 74,275,580 (GRCm39)	E752G	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,112,408 (GRCm39)	F2283I	probably benign	Het
Luc7l3	A	G	11: 94,192,320 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Map1a	A	G	2: 121,131,986 (GRCm39)	E696G	probably damaging	Het
Mrps34	A	G	17: 25,114,643 (GRCm39)	D110G	probably damaging	Het
Myh11	T	A	16: 14,022,231 (GRCm39)	K1710M	possibly damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Nos1ap	T	C	1: 170,156,816 (GRCm39)	D214G	probably damaging	Het
Or4c119	A	T	2: 88,986,640 (GRCm39)	M293K	probably benign	Het
Or8b46	A	T	9: 38,450,832 (GRCm39)	I214F	probably damaging	Het
Pate4	T	G	9: 35,523,130 (GRCm39)	T5P	probably damaging	Het
Pygl	A	T	12: 70,237,940 (GRCm39)		probably benign	Het
Samd4	A	T	14: 47,301,754 (GRCm39)	M252L	possibly damaging	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,835,600 (GRCm39)	W921R	probably damaging	Het
Skint5	A	T	4: 113,454,965 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,045,528 (GRCm39)	Q31K	probably damaging	Het
Taar7f	A	G	10: 23,926,152 (GRCm39)	M249V	probably benign	Het
Tarm1	T	C	7: 3,546,067 (GRCm39)	T79A	probably benign	Het
Tektl1	T	A	10: 78,584,539 (GRCm39)	I328L	probably benign	Het
Trf	A	G	9: 103,099,358 (GRCm39)	F300L	probably damaging	Het
Vmn1r69	T	A	7: 10,313,985 (GRCm39)	I170F	probably damaging	Het
Vmn2r105	A	G	17: 20,447,741 (GRCm39)	F361S	possibly damaging	Het
Vmn2r79	A	G	7: 86,686,527 (GRCm39)	Y636C	probably damaging	Het
Wdr59	T	C	8: 112,231,005 (GRCm39)	N68D	probably damaging	Het
Zfp345	T	A	2: 150,314,220 (GRCm39)	H439L	probably damaging	Het

Other mutations in BC005537

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E_pluribus_unum	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R0096:BC005537	UTSW	13	24,989,923 (GRCm39)	missense	probably damaging	0.98
R0711:BC005537	UTSW	13	24,989,923 (GRCm39)	missense	probably damaging	0.98
R1288:BC005537	UTSW	13	24,988,883 (GRCm39)	missense	probably damaging	1.00
R1453:BC005537	UTSW	13	24,989,969 (GRCm39)	critical splice donor site	probably null
R2084:BC005537	UTSW	13	24,996,698 (GRCm39)	splice site	probably null
R2391:BC005537	UTSW	13	24,993,898 (GRCm39)	nonsense	probably null
R4052:BC005537	UTSW	13	24,993,881 (GRCm39)	missense	possibly damaging	0.68
R4580:BC005537	UTSW	13	24,987,394 (GRCm39)	missense	probably benign	0.12
R7699:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7748:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7779:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7781:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7782:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7783:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7816:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7817:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7868:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R7869:BC005537	UTSW	13	24,987,382 (GRCm39)	missense	possibly damaging	0.95
R8159:BC005537	UTSW	13	24,993,916 (GRCm39)	missense	probably benign	0.12
R9650:BC005537	UTSW	13	24,986,122 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTAATGCACGACTCTAGTTGAGCC -3'
(R):5'- TCTGTGACTGAGTGACTGCCTCTG -3'

Sequencing Primer
(F):5'- CTAGTTGAGCCATGTTTTTGTACC -3'
(R):5'- ggaggttcaaggtcaccag -3'

Posted On

2013-08-06