Mutagenetix > Incidental Mutation

Incidental Mutation 'R7859:BB014433'

607365

Institutional Source

Beutler Lab

Gene Symbol

BB014433

Ensembl Gene

ENSMUSG00000049008

Gene Name

expressed sequence BB014433

Synonyms

MMRRC Submission

045912-MU

Accession Numbers

Essential gene?

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

Stock #

R7859 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

15091446-15096078 bp(-) (GRCm39)

Type of Mutation

small deletion (14 aa in frame mutation)

DNA Base Change (assembly)

GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG to GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG at 15092160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137001 (fasta)

Gene Model

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

AlphaFold

Q8C5R5

Predicted Effect

probably benign
Transcript: ENSMUST00000050493

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,603,500 (GRCm39)	L564P	probably damaging	Het
Arsb	T	A	13: 93,998,615 (GRCm39)	S308T	probably benign	Het
Atxn10	A	G	15: 85,346,526 (GRCm39)	D428G	probably benign	Het
Cd300a	T	C	11: 114,784,165 (GRCm39)	Y58H	probably benign	Het
Cemip2	T	A	19: 21,809,539 (GRCm39)	I973N	possibly damaging	Het
Crkl	T	A	16: 17,286,960 (GRCm39)	M172K	probably damaging	Het
Cyfip1	T	C	7: 55,549,774 (GRCm39)	I647T	probably damaging	Het
Dlgap1	A	G	17: 70,823,683 (GRCm39)	T223A	probably benign	Het
Dmtf1	T	C	5: 9,178,044 (GRCm39)	S372G	probably damaging	Het
Dock8	G	A	19: 25,160,934 (GRCm39)	V1814M	probably damaging	Het
Dusp22	A	C	13: 30,892,737 (GRCm39)	K171N	probably benign	Het
Evi2a	T	C	11: 79,418,452 (GRCm39)	S53G	probably benign	Het
Ipcef1	T	A	10: 6,840,569 (GRCm39)	D376V	probably damaging	Het
Kndc1	A	T	7: 139,500,880 (GRCm39)	D723V	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Mcur1	G	A	13: 43,713,485 (GRCm39)	R40*	probably null	Het
Mgam	T	A	6: 40,717,113 (GRCm39)	N265K	possibly damaging	Het
Muc6	G	A	7: 141,231,687 (GRCm39)	T1069I	probably damaging	Het
Myh2	T	C	11: 67,077,526 (GRCm39)	L887P	probably damaging	Het
Myo1d	T	G	11: 80,575,203 (GRCm39)	D171A	probably damaging	Het
Nat2	T	A	8: 67,954,002 (GRCm39)	F37L	probably damaging	Het
Nkx2-2	A	G	2: 147,019,730 (GRCm39)	C236R	unknown	Het
Nrl	G	A	14: 55,759,582 (GRCm39)	S115L	probably benign	Het
Nrsn1	A	C	13: 25,446,254 (GRCm39)	S41A	probably damaging	Het
Or5b12	T	A	19: 12,897,346 (GRCm39)	E109V	probably damaging	Het
Pax8	T	A	2: 24,311,567 (GRCm39)	H456L	possibly damaging	Het
Pkd1	T	A	17: 24,790,254 (GRCm39)	I979K	probably damaging	Het
Prex2	A	G	1: 11,150,274 (GRCm39)	N149D	probably damaging	Het
Psg28	A	T	7: 18,160,149 (GRCm39)	V349D	probably damaging	Het
Ptpro	G	A	6: 137,369,805 (GRCm39)		probably null	Het
Sema4d	T	A	13: 51,876,387 (GRCm39)	K94N	probably benign	Het
Slc22a22	A	T	15: 57,114,348 (GRCm39)	D326E	probably benign	Het
Slc25a29	G	A	12: 108,792,756 (GRCm39)	T274I	probably benign	Het
Slc43a1	T	C	2: 84,687,220 (GRCm39)	F374L	possibly damaging	Het
Syne1	G	T	10: 5,107,683 (GRCm39)	Q520K	possibly damaging	Het
Taar4	T	C	10: 23,837,032 (GRCm39)	V214A	probably benign	Het
Tex22	T	A	12: 113,052,103 (GRCm39)	C54S	possibly damaging	Het
Tpo	T	A	12: 30,150,573 (GRCm39)	I436F	probably damaging	Het
Usp53	T	C	3: 122,743,415 (GRCm39)	H507R	possibly damaging	Het
Usp54	T	C	14: 20,638,204 (GRCm39)	E255G	probably benign	Het
Vmn2r109	G	T	17: 20,761,436 (GRCm39)	F640L	probably damaging	Het
Vmn2r124	A	G	17: 18,282,212 (GRCm39)	Y80C	probably damaging	Het
Vmn2r27	A	T	6: 124,201,201 (GRCm39)	I252K	probably benign	Het
Zfp457	A	G	13: 67,454,445 (GRCm39)		probably benign	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
R4882:BB014433	UTSW	8	15,092,016 (GRCm39)	missense	probably benign	0.05
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
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'- TCTGCACACAGCTTTGGAG -3'
(R):5'- GGTGTCTGCAACCCCAAAAC -3'

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

Posted On

2019-12-20