Mutagenetix > Incidental Mutation

Incidental Mutation 'R4882:BB014433'

375331

Institutional Source

Beutler Lab

Gene Symbol

BB014433

Ensembl Gene

ENSMUSG00000049008

Gene Name

expressed sequence BB014433

Synonyms

MMRRC Submission

042490-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4882 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

15091446-15096078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15092016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 279 (V279A)

Ref Sequence

ENSEMBL: ENSMUSP00000137001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]

AlphaFold

Q8C5R5

Predicted Effect

probably benign
Transcript: ENSMUST00000050493
AA Change: V279A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000123331

SMART Domains

Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008

Domain	Start	End	E-Value	Type
internal_repeat_1	27	51	1.93e-5	PROSPERO
internal_repeat_2	31	59	5.9e-5	PROSPERO
internal_repeat_2	85	113	5.9e-5	PROSPERO
internal_repeat_1	95	117	1.93e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000179941
AA Change: V279A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209938

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,990,112 (GRCm39)	D764G	probably damaging	Het
Adgrg6	T	A	10: 14,310,081 (GRCm39)	I775F	possibly damaging	Het
Ahnak	T	A	19: 8,983,261 (GRCm39)	M1515K	probably damaging	Het
Aqp4	A	G	18: 15,531,311 (GRCm39)	V150A	possibly damaging	Het
Axdnd1	A	T	1: 156,223,129 (GRCm39)		probably null	Het
Bap1	C	T	14: 30,973,678 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,460,669 (GRCm39)	Y151H	probably damaging	Het
Caskin1	T	C	17: 24,723,389 (GRCm39)	S726P	probably damaging	Het
Cd200	T	C	16: 45,217,380 (GRCm39)	T104A	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Ceacam13	A	G	7: 17,746,997 (GRCm39)	H150R	probably benign	Het
Cebpzos	T	C	17: 79,227,220 (GRCm39)	Y65H	probably benign	Het
Cgnl1	T	A	9: 71,624,683 (GRCm39)	M630L	probably benign	Het
Dop1b	G	T	16: 93,549,802 (GRCm39)	R247L	possibly damaging	Het
Dqx1	A	G	6: 83,043,069 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,896,174 (GRCm39)	S648G	probably benign	Het
Flnb	A	G	14: 7,929,936 (GRCm38)	D2022G	possibly damaging	Het
Gpr158	T	A	2: 21,830,059 (GRCm39)	N701K	probably damaging	Het
H2-Eb2	C	T	17: 34,553,230 (GRCm39)	H139Y	probably benign	Het
Hbb-bh2	A	T	7: 103,488,455 (GRCm39)	V114E	probably damaging	Het
Ifna9	T	A	4: 88,510,540 (GRCm39)	Q28L	probably benign	Het
Inca1	T	C	11: 70,579,566 (GRCm39)	T188A	probably benign	Het
Irf9	G	T	14: 55,846,496 (GRCm39)		probably benign	Het
Kdm1b	T	A	13: 47,214,369 (GRCm39)	H238Q	probably benign	Het
Lpin1	G	C	12: 16,588,537 (GRCm39)	F851L	probably damaging	Het
Map3k9	C	T	12: 81,770,936 (GRCm39)	R884Q	probably damaging	Het
Mcm3ap	C	T	10: 76,320,495 (GRCm39)	Q818*	probably null	Het
Mcm7	A	T	5: 138,164,173 (GRCm39)		probably null	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nppa	G	T	4: 148,085,544 (GRCm39)	M50I	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Phf14	T	A	6: 11,988,756 (GRCm39)	N665K	possibly damaging	Het
Plekhh3	G	A	11: 101,056,009 (GRCm39)	A47V	probably damaging	Het
Plekhh3	T	A	11: 101,058,764 (GRCm39)	E156V	probably null	Het
Prpf19	T	C	19: 10,876,323 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,697,456 (GRCm39)	V651E	possibly damaging	Het
Sgpl1	T	C	10: 60,948,044 (GRCm39)	N171S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slx4	T	C	16: 3,798,860 (GRCm39)		probably null	Het
Smchd1	T	A	17: 71,665,234 (GRCm39)		probably benign	Het
Snca	A	G	6: 60,792,719 (GRCm39)	V63A	probably benign	Het
Taok3	A	T	5: 117,390,695 (GRCm39)	Q92L	probably damaging	Het
Uhrf1	T	C	17: 56,616,401 (GRCm39)	V73A	probably damaging	Het
Usp38	G	A	8: 81,708,606 (GRCm39)	Q991*	probably null	Het
Vmn2r96	T	A	17: 18,817,866 (GRCm39)	V673E	probably damaging	Het
Zan	A	G	5: 137,436,710 (GRCm39)	Y2048H	unknown	Het
Zfp759	T	A	13: 67,287,354 (GRCm39)	Y302N	probably damaging	Het

Other mutations in BB014433

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:BB014433	APN	8	15,092,510 (GRCm39)	missense	probably benign	0.03
IGL01595:BB014433	APN	8	15,092,499 (GRCm39)	splice site	probably null
IGL02056:BB014433	APN	8	15,092,435 (GRCm39)	nonsense	probably null
IGL02470:BB014433	APN	8	15,092,803 (GRCm39)	missense	unknown
R0359:BB014433	UTSW	8	15,092,540 (GRCm39)	nonsense	probably null
R1066:BB014433	UTSW	8	15,092,185 (GRCm39)	missense	probably damaging	1.00
R1837:BB014433	UTSW	8	15,092,629 (GRCm39)	missense	unknown
R1838:BB014433	UTSW	8	15,092,629 (GRCm39)	missense	unknown
R2227:BB014433	UTSW	8	15,091,717 (GRCm39)	missense	probably benign	0.34
R4508:BB014433	UTSW	8	15,092,095 (GRCm39)	missense	possibly damaging	0.83
R4996:BB014433	UTSW	8	15,092,166 (GRCm39)	missense	probably benign	0.10
R5988:BB014433	UTSW	8	15,091,854 (GRCm39)	missense	probably damaging	1.00
R6051:BB014433	UTSW	8	15,092,179 (GRCm39)	missense	possibly damaging	0.83
R6483:BB014433	UTSW	8	15,092,208 (GRCm39)	missense	probably benign	0.10
R6505:BB014433	UTSW	8	15,092,304 (GRCm39)	missense	probably benign	0.10
R7237:BB014433	UTSW	8	15,091,765 (GRCm39)	missense	probably benign	0.13
R7771:BB014433	UTSW	8	15,092,395 (GRCm39)	missense	probably damaging	1.00
R7847:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R7859:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R8377:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R8560:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R8993:BB014433	UTSW	8	15,092,101 (GRCm39)	missense	probably damaging	1.00
R9204:BB014433	UTSW	8	15,092,623 (GRCm39)	missense	unknown
R9446:BB014433	UTSW	8	15,091,810 (GRCm39)	small deletion	probably benign
R9542:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
X0066:BB014433	UTSW	8	15,092,833 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGCACACAGCTTTGGAGG -3'
(R):5'- TGTGTACACCTCCAAAGCTG -3'

Sequencing Primer
(F):5'- CAGCTTTGGAGGTGTACACAC -3'
(R):5'- GTACACCTCCAAAGCTGTGTGC -3'

Posted On

2016-03-17