Mutagenetix > Incidental Mutation

Incidental Mutation 'R4417:BC004004'

326904

Institutional Source

Beutler Lab

Gene Symbol

BC004004

Ensembl Gene

ENSMUSG00000052712

Gene Name

cDNA sequence BC004004

Synonyms

2400006G15Rik

MMRRC Submission

041138-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29487762-29521862 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 29501249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064709] [ENSMUST00000120346] [ENSMUST00000149405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064709

SMART Domains

Protein: ENSMUSP00000066224
Gene: ENSMUSG00000052712

Domain	Start	End	E-Value	Type
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	222	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120346

SMART Domains

Protein: ENSMUSP00000113315
Gene: ENSMUSG00000052712

Domain	Start	End	E-Value	Type
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	222	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149405

SMART Domains

Protein: ENSMUSP00000117309
Gene: ENSMUSG00000052712

Domain	Start	End	E-Value	Type
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	222	236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156215

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	A	1: 85,654,184 (GRCm39)	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,474,398 (GRCm39)	T631K	probably damaging	Het
Cabp1	G	A	5: 115,324,096 (GRCm39)	S7L	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Clhc1	T	C	11: 29,521,826 (GRCm39)	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666 (GRCm39)	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,896,466 (GRCm39)	E61G	unknown	Het
Col6a4	C	T	9: 105,949,215 (GRCm39)	V807I	probably damaging	Het
Crhbp	T	C	13: 95,580,385 (GRCm39)	S65G	probably benign	Het
Dnah9	T	A	11: 65,872,040 (GRCm39)	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,760,256 (GRCm39)	R453*	probably null	Het
Fez1	T	C	9: 36,781,768 (GRCm39)		probably benign	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Glp2r	T	C	11: 67,555,342 (GRCm39)		probably benign	Het
Gpm6a	T	A	8: 55,503,223 (GRCm39)	N157K	probably damaging	Het
Kcnj2	T	C	11: 110,963,015 (GRCm39)	S136P	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lcp2	G	T	11: 34,000,917 (GRCm39)	E33D	probably benign	Het
Lrrc32	G	T	7: 98,148,144 (GRCm39)	R308L	probably benign	Het
Matr3	C	A	18: 35,705,171 (GRCm39)	A32D	probably damaging	Het
Mfsd12	A	G	10: 81,200,537 (GRCm39)		probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,038,586 (GRCm39)	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,805,333 (GRCm39)		probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or4c125	T	C	2: 89,170,331 (GRCm39)	E105G	probably benign	Het
Pasd1	G	A	X: 70,983,225 (GRCm39)	C399Y	possibly damaging	Het
Pitpnm2	G	T	5: 124,261,632 (GRCm39)	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756 (GRCm39)	E578G	probably benign	Het
Pum3	A	G	19: 27,400,116 (GRCm39)	I183T	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Slit1	A	G	19: 41,602,908 (GRCm39)	C968R	probably damaging	Het
Spag9	A	T	11: 93,951,172 (GRCm39)		probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Stradb	T	C	1: 59,033,531 (GRCm39)	V398A	probably benign	Het
Tlr4	A	T	4: 66,757,540 (GRCm39)	N111I	probably damaging	Het
Tnip2	G	A	5: 34,660,925 (GRCm39)	R176*	probably null	Het
Tomm7	A	G	5: 24,048,977 (GRCm39)	I32T	probably benign	Het
Trank1	T	C	9: 111,195,036 (GRCm39)	I1020T	probably benign	Het
Ugt1a10	T	G	1: 87,983,717 (GRCm39)	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,564,854 (GRCm39)	M247K	probably benign	Het
Zfp341	T	C	2: 154,470,907 (GRCm39)	L308P	possibly damaging	Het
Zmym6	T	C	4: 126,986,781 (GRCm39)	S154P	probably damaging	Het

Other mutations in BC004004

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:BC004004	APN	17	29,501,225 (GRCm39)	missense	probably damaging	1.00
IGL01454:BC004004	APN	17	29,512,995 (GRCm39)	missense	possibly damaging	0.76
IGL02437:BC004004	APN	17	29,517,671 (GRCm39)	missense	probably damaging	0.99
R0677:BC004004	UTSW	17	29,517,638 (GRCm39)	missense	probably damaging	1.00
R1440:BC004004	UTSW	17	29,515,665 (GRCm39)	critical splice donor site	probably null
R3744:BC004004	UTSW	17	29,520,423 (GRCm39)	makesense	probably null
R4017:BC004004	UTSW	17	29,517,706 (GRCm39)	missense	probably damaging	0.98
R4883:BC004004	UTSW	17	29,501,166 (GRCm39)	missense	probably damaging	1.00
R5071:BC004004	UTSW	17	29,513,389 (GRCm39)	critical splice donor site	probably null
R5619:BC004004	UTSW	17	29,501,703 (GRCm39)	missense	probably damaging	1.00
R5768:BC004004	UTSW	17	29,501,709 (GRCm39)	missense	probably damaging	1.00
R5846:BC004004	UTSW	17	29,501,282 (GRCm39)	intron	probably benign
R6259:BC004004	UTSW	17	29,517,686 (GRCm39)	missense	possibly damaging	0.87
R8087:BC004004	UTSW	17	29,513,064 (GRCm39)	missense	probably damaging	0.96
R9015:BC004004	UTSW	17	29,517,637 (GRCm39)	missense	probably damaging	1.00
R9022:BC004004	UTSW	17	29,501,130 (GRCm39)	missense	possibly damaging	0.93
R9308:BC004004	UTSW	17	29,513,089 (GRCm39)	missense	probably benign	0.00
R9328:BC004004	UTSW	17	29,501,682 (GRCm39)	missense	possibly damaging	0.93
RF012:BC004004	UTSW	17	29,501,782 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGATCTTGCTGCTAATGAGATCAG -3'
(R):5'- AGTTTTCATCCCGCTGCCAG -3'

Sequencing Primer
(F):5'- GCTGCTAATGAGATCAGCATCTATG -3'
(R):5'- AGGTGCTACGCCCACTAC -3'

Posted On

2015-07-07