Mutagenetix > Incidental Mutations

Incidental Mutation 'R4892:Babam1'

377344

Institutional Source

Beutler Lab

Gene Symbol

Babam1

Ensembl Gene

ENSMUSG00000031820

Gene Name

BRISC and BRCA1 A complex member 1

Synonyms

5430437P03Rik

MMRRC Submission

042497-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R4892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71396861-71404619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71403052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 263 (M263K)

Ref Sequence

ENSEMBL: ENSMUSP00000002473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000119976] [ENSMUST00000120725]

AlphaFold

Q3UI43

Predicted Effect

probably benign
Transcript: ENSMUST00000002473
AA Change: M263K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: M263K

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
low complexity region	321	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119976

SMART Domains

Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295

Domain	Start	End	E-Value	Type
ANK	6	35	7.52e2	SMART
ANK	39	71	4.01e0	SMART
ANK	75	104	2.37e-2	SMART
ANK	108	139	1.99e2	SMART
low complexity region	177	193	N/A	INTRINSIC
Pfam:LEM	282	319	4.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120725

SMART Domains

Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295

Domain	Start	End	E-Value	Type
ANK	6	35	7.52e2	SMART
ANK	39	71	4.01e0	SMART
ANK	75	104	2.37e-2	SMART
ANK	108	139	1.99e2	SMART
low complexity region	157	173	N/A	INTRINSIC
Pfam:LEM	261	300	1.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212383

Predicted Effect

probably benign
Transcript: ENSMUST00000212769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213093

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 86,509,802	T1128A	probably benign	Het
Apol11a	A	T	15: 77,516,990	K226*	probably null	Het
Atp4a	A	G	7: 30,712,474	M45V	probably benign	Het
Capn11	GACA	GA	17: 45,633,097		probably null	Het
Ccdc190	C	A	1: 169,930,109	L46I	possibly damaging	Het
Cep131	C	T	11: 120,068,057	R717H	probably damaging	Het
Cpt1c	A	G	7: 44,959,588	F770L	probably benign	Het
Dhx30	A	T	9: 110,085,856		probably null	Het
Dido1	G	A	2: 180,675,029	Q662*	probably null	Het
Dip2a	T	C	10: 76,280,759	E910G	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fmo3	T	A	1: 162,968,731	I91F	probably benign	Het
Gdap1	A	C	1: 17,159,994	D217A	possibly damaging	Het
Grm1	T	C	10: 10,719,587	S766G	possibly damaging	Het
Kat8	T	A	7: 127,915,538	I123N	possibly damaging	Het
Kcnt2	C	A	1: 140,513,025	S23*	probably null	Het
Krt73	G	A	15: 101,795,809	T432I	probably damaging	Het
Lgals9	T	A	11: 78,966,083	I223L	probably benign	Het
Mpo	T	A	11: 87,802,681	N48K	probably benign	Het
Myo9a	T	G	9: 59,824,242	H632Q	probably damaging	Het
Olfr1386	C	A	11: 49,470,216	Q22K	probably benign	Het
Olfr1412	A	G	1: 92,588,921	N197S	probably benign	Het
Prelid2	A	G	18: 41,951,144	F11S	possibly damaging	Het
Setd1a	G	T	7: 127,778,524	V57L	probably damaging	Het
Sgip1	A	G	4: 102,966,234	D704G	probably damaging	Het
Spryd3	T	C	15: 102,118,102	E378G	probably benign	Het
Stk17b	A	T	1: 53,771,611	Y112N	probably damaging	Het
Syndig1	A	T	2: 149,899,891	K132N	probably damaging	Het
Tcf20	C	T	15: 82,854,199	R1017Q	possibly damaging	Het
Tenm3	T	A	8: 48,276,861	D1370V	probably damaging	Het
Tnrc6a	C	T	7: 123,169,911	T308I	probably damaging	Het
Ttc29	T	C	8: 78,333,645	V398A	probably damaging	Het
Ubr4	A	G	4: 139,428,517	T2218A	probably benign	Het

Other mutations in Babam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Babam1	APN	8	71398406	missense	probably damaging	1.00
IGL03267:Babam1	APN	8	71403064	critical splice donor site	probably null
I2288:Babam1	UTSW	8	71397823	missense	probably damaging	1.00
R0270:Babam1	UTSW	8	71398406	missense	probably damaging	1.00
R1532:Babam1	UTSW	8	71399633	missense	possibly damaging	0.54
R1559:Babam1	UTSW	8	71397780	missense	probably damaging	0.99
R1740:Babam1	UTSW	8	71403019	missense	probably damaging	0.99
R2143:Babam1	UTSW	8	71398440	missense	probably damaging	1.00
R2342:Babam1	UTSW	8	71402871	missense	probably benign	0.42
R4639:Babam1	UTSW	8	71404307	missense	probably damaging	1.00
R4935:Babam1	UTSW	8	71399802	missense	probably benign	0.33
R4965:Babam1	UTSW	8	71404388	missense	possibly damaging	0.90
R5192:Babam1	UTSW	8	71404253	missense	probably damaging	1.00
R5836:Babam1	UTSW	8	71403043	missense	probably benign	0.01
R6340:Babam1	UTSW	8	71402805	missense	probably damaging	1.00
R7356:Babam1	UTSW	8	71399564	missense	probably benign	0.01
R7967:Babam1	UTSW	8	71404355	missense	probably damaging	1.00
R8310:Babam1	UTSW	8	71397985	missense	possibly damaging	0.95
R9301:Babam1	UTSW	8	71403040	missense	possibly damaging	0.89
Z1177:Babam1	UTSW	8	71399563	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ACTGAGCCCATGAAGGTGAG -3'
(R):5'- GGATACAGCTGGGGAATGTC -3'

Sequencing Primer
(F):5'- CCATGAAGGTGAGCCTGG -3'
(R):5'- TACAGCTGGGGAATGTCAGGAATAG -3'

Posted On

2016-03-17