Mutagenetix > Incidental Mutation

Incidental Mutation 'R2227:BB014433'

239791

Institutional Source

Beutler Lab

Gene Symbol

BB014433

Ensembl Gene

ENSMUSG00000049008

Gene Name

expressed sequence BB014433

Synonyms

MMRRC Submission

040228-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2227 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15091446-15096078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15091717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 379 (A379S)

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: A379S

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

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: A379S

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209938

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	A	14: 60,325,668 (GRCm39)		probably benign	Het
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Agl	A	T	3: 116,581,961 (GRCm39)	V306D	possibly damaging	Het
Alpk2	T	A	18: 65,511,147 (GRCm39)	T17S	probably damaging	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Ccl2	G	T	11: 81,927,427 (GRCm39)		probably null	Het
Cct2	T	C	10: 116,888,922 (GRCm39)	R526G	probably null	Het
Cep55	T	C	19: 38,051,082 (GRCm39)	M164T	probably benign	Het
Clec2d	G	A	6: 129,161,214 (GRCm39)	A104T	probably benign	Het
Cyp3a11	A	G	5: 145,805,357 (GRCm39)	L220P	possibly damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Exoc2	T	A	13: 31,048,867 (GRCm39)	I729L	probably benign	Het
Fbxl20	T	C	11: 97,981,675 (GRCm39)	I338V	probably benign	Het
Gucy2c	G	A	6: 136,679,758 (GRCm39)	T943I	probably damaging	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Il17rb	A	T	14: 29,728,038 (GRCm39)	S56R	probably benign	Het
Knl1	A	G	2: 118,902,481 (GRCm39)	D1394G	probably damaging	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Krt6b	A	G	15: 101,587,557 (GRCm39)	V179A	probably damaging	Het
Lpar5	A	T	6: 125,058,098 (GRCm39)		probably null	Het
Marchf7	A	G	2: 60,060,190 (GRCm39)	R106G	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Myl1	T	C	1: 66,983,974 (GRCm39)	K31E	possibly damaging	Het
Myt1l	T	A	12: 29,876,969 (GRCm39)	L207I	unknown	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,376,188 (GRCm39)	I950T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Rc3h1	T	C	1: 160,791,112 (GRCm39)	I932T	probably benign	Het
Rubcnl	G	A	14: 75,279,832 (GRCm39)	R405Q	probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sgsm3	A	G	15: 80,888,069 (GRCm39)	E53G	probably damaging	Het
Slco1a8	T	G	6: 141,938,087 (GRCm39)	E277D	possibly damaging	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Thoc2l	T	A	5: 104,667,286 (GRCm39)	Y603N	probably damaging	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn1r86	T	C	7: 12,836,847 (GRCm39)	I10V	probably benign	Het
Xpot	T	C	10: 121,458,765 (GRCm39)	R20G	probably damaging	Het
Zfp735	T	A	11: 73,602,222 (GRCm39)	L389I	possibly damaging	Het
Zfp735	T	G	11: 73,602,223 (GRCm39)	L389*	probably null	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
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
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'- GTGTTTTGCCACACAGTGTTTC -3'
(R):5'- TACACCTCCAAAGCTGTGTGC -3'

Sequencing Primer
(F):5'- TGGTAACTTGTCCCAGACAC -3'
(R):5'- TCCAAAGCTGTGTGCAGAGC -3'

Posted On

2014-10-15