Mutagenetix > Incidental Mutation

Incidental Mutation 'R4935:Babam1'

380305

Institutional Source

Beutler Lab

Gene Symbol

Babam1

Ensembl Gene

ENSMUSG00000031820

Gene Name

BRISC and BRCA1 A complex member 1

Synonyms

5430437P03Rik

MMRRC Submission

042535-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R4935 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

71849505-71857263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71852446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 184 (T184I)

Ref Sequence

ENSEMBL: ENSMUSP00000002473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000049184] [ENSMUST00000212626]

AlphaFold

Q3UI43

Predicted Effect

probably benign
Transcript: ENSMUST00000002473
AA Change: T184I

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: T184I

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: ENSMUST00000049184

SMART Domains

Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
coiled coil region	179	218	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	288	352	1.3e-29	PFAM
Blast:HOLI	467	623	2e-24	BLAST
coiled coil region	628	662	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212383

Predicted Effect

probably benign
Transcript: ENSMUST00000212626

Predicted Effect

unknown
Transcript: ENSMUST00000212769
AA Change: T65I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213093

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 86.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	G	11: 6,150,442 (GRCm39)	*138W	probably null	Het
Abcb1a	T	A	5: 8,787,773 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,079,060 (GRCm39)		probably null	Het
Adcyap1	A	T	17: 93,511,541 (GRCm39)	I172L	probably benign	Het
Adgrf1	A	C	17: 43,606,130 (GRCm39)	I85L	probably benign	Het
Afdn	A	T	17: 14,111,228 (GRCm39)	T1604S	probably benign	Het
Angpt2	T	C	8: 18,742,131 (GRCm39)	Y475C	probably damaging	Het
Ank2	A	G	3: 126,749,713 (GRCm39)	S439P	probably damaging	Het
Ank3	T	A	10: 69,812,033 (GRCm39)	N366K	probably damaging	Het
Ankrd11	A	G	8: 123,626,922 (GRCm39)	S87P	probably benign	Het
Ano7	T	A	1: 93,323,036 (GRCm39)	S459T	possibly damaging	Het
Asxl3	G	A	18: 22,656,369 (GRCm39)	V1460M	probably benign	Het
Atg16l1	A	C	1: 87,694,764 (GRCm39)	N147T	possibly damaging	Het
Atp10a	T	C	7: 58,463,512 (GRCm39)	V1015A	probably damaging	Het
Atxn7	T	A	14: 14,100,401 (GRCm38)	S696T	probably benign	Het
Blk	A	G	14: 63,618,711 (GRCm39)	S175P	possibly damaging	Het
Col5a1	T	A	2: 27,914,754 (GRCm39)	F123L	probably damaging	Het
Csmd3	T	C	15: 48,024,480 (GRCm39)	Y496C	probably damaging	Het
Dnah3	A	T	7: 119,615,700 (GRCm39)	Y1676*	probably null	Het
Fdxacb1	T	A	9: 50,683,243 (GRCm39)	M402K	probably benign	Het
Frmd5	A	G	2: 121,393,405 (GRCm39)	V141A	possibly damaging	Het
Gapvd1	G	A	2: 34,594,504 (GRCm39)	R685*	probably null	Het
Grik2	A	G	10: 49,116,826 (GRCm39)	L645P	probably damaging	Het
H2aj	T	A	6: 136,785,681 (GRCm39)	V115E	possibly damaging	Het
Hrh3	T	C	2: 179,743,061 (GRCm39)	Y189C	probably damaging	Het
Kcnc2	A	G	10: 112,108,133 (GRCm39)	T175A	probably benign	Het
Kcnv2	A	G	19: 27,300,332 (GRCm39)	Y61C	probably damaging	Het
Kif24	T	C	4: 41,394,939 (GRCm39)	R645G	probably damaging	Het
Knl1	A	G	2: 118,899,438 (GRCm39)	I380V	possibly damaging	Het
Lamb2	A	G	9: 108,364,700 (GRCm39)	I1151M	possibly damaging	Het
Leo1	A	G	9: 75,353,159 (GRCm39)	D234G	probably benign	Het
Lrp1b	T	G	2: 41,388,405 (GRCm39)	N407H	probably benign	Het
Matn2	T	C	15: 34,428,831 (GRCm39)	S732P	probably damaging	Het
Mrps30	A	T	13: 118,523,431 (GRCm39)	F114I	possibly damaging	Het
Or1l8	T	C	2: 36,817,713 (GRCm39)	N138D	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,793 (GRCm39)	V45I	probably damaging	Het
Or5b123	T	C	19: 13,597,066 (GRCm39)	I180T	probably benign	Het
Oxr1	T	C	15: 41,676,980 (GRCm39)	V179A	probably benign	Het
Plaur	A	T	7: 24,166,141 (GRCm39)	S71C	possibly damaging	Het
Plbd2	T	C	5: 120,624,786 (GRCm39)	N461D	possibly damaging	Het
Plcb2	T	A	2: 118,549,396 (GRCm39)	Y322F	probably damaging	Het
Prkab2	T	C	3: 97,569,671 (GRCm39)	V79A	probably damaging	Het
Ptpn3	A	T	4: 57,197,568 (GRCm39)	C774S	probably damaging	Het
Ring1	A	C	17: 34,242,016 (GRCm39)	L131R	probably benign	Het
Rxfp2	G	A	5: 149,975,097 (GRCm39)		probably null	Het
Selenbp1	A	T	3: 94,845,269 (GRCm39)	I122F	probably benign	Het
Septin7	A	G	9: 25,217,468 (GRCm39)	H394R	probably benign	Het
Slc1a7	G	A	4: 107,864,758 (GRCm39)	V266I	probably damaging	Het
Slc2a10	A	G	2: 165,359,578 (GRCm39)	T481A	probably benign	Het
Spmap2l	T	C	5: 77,185,200 (GRCm39)		probably null	Het
Tapbp	A	G	17: 34,144,596 (GRCm39)	M231V	probably benign	Het
Tbxas1	A	T	6: 38,999,981 (GRCm39)	N256I	probably benign	Het
Uimc1	A	G	13: 55,240,998 (GRCm39)	I30T	probably damaging	Het
Usp48	C	A	4: 137,377,669 (GRCm39)	N231K	probably benign	Het
Zfhx3	T	G	8: 109,674,482 (GRCm39)	V1844G	possibly damaging	Het
Znrf3	A	T	11: 5,233,422 (GRCm39)	C212S	probably damaging	Het

Other mutations in Babam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Babam1	APN	8	71,851,050 (GRCm39)	missense	probably damaging	1.00
IGL03267:Babam1	APN	8	71,855,708 (GRCm39)	critical splice donor site	probably null
I2288:Babam1	UTSW	8	71,850,467 (GRCm39)	missense	probably damaging	1.00
R0270:Babam1	UTSW	8	71,851,050 (GRCm39)	missense	probably damaging	1.00
R1532:Babam1	UTSW	8	71,852,277 (GRCm39)	missense	possibly damaging	0.54
R1559:Babam1	UTSW	8	71,850,424 (GRCm39)	missense	probably damaging	0.99
R1740:Babam1	UTSW	8	71,855,663 (GRCm39)	missense	probably damaging	0.99
R2143:Babam1	UTSW	8	71,851,084 (GRCm39)	missense	probably damaging	1.00
R2342:Babam1	UTSW	8	71,855,515 (GRCm39)	missense	probably benign	0.42
R4639:Babam1	UTSW	8	71,856,951 (GRCm39)	missense	probably damaging	1.00
R4892:Babam1	UTSW	8	71,855,696 (GRCm39)	missense	probably benign	0.04
R4965:Babam1	UTSW	8	71,857,032 (GRCm39)	missense	possibly damaging	0.90
R5192:Babam1	UTSW	8	71,856,897 (GRCm39)	missense	probably damaging	1.00
R5836:Babam1	UTSW	8	71,855,687 (GRCm39)	missense	probably benign	0.01
R6340:Babam1	UTSW	8	71,855,449 (GRCm39)	missense	probably damaging	1.00
R7356:Babam1	UTSW	8	71,852,208 (GRCm39)	missense	probably benign	0.01
R7967:Babam1	UTSW	8	71,856,999 (GRCm39)	missense	probably damaging	1.00
R8310:Babam1	UTSW	8	71,850,629 (GRCm39)	missense	possibly damaging	0.95
R9301:Babam1	UTSW	8	71,855,684 (GRCm39)	missense	possibly damaging	0.89
Z1177:Babam1	UTSW	8	71,852,207 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCACAAGATTGACAAGAGCC -3'
(R):5'- TGAAGGCATGGTTCTGAAGCTC -3'

Sequencing Primer
(F):5'- TTGTAGTGAATGACGACTCCGCC -3'
(R):5'- AAGCTCTGTAGTGTTACTCTCAAGG -3'

Posted On

2016-04-15