Mutagenetix > Incidental Mutation

Incidental Mutation 'R1559:Babam1'

170502

Institutional Source

Beutler Lab

Gene Symbol

Babam1

Ensembl Gene

ENSMUSG00000031820

Gene Name

BRISC and BRCA1 A complex member 1

Synonyms

5430437P03Rik

MMRRC Submission

039598-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R1559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71849505-71857263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 71850424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 18 (E18Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002473 (fasta)

Gene Model

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

AlphaFold

Q3UI43

Predicted Effect

probably damaging
Transcript: ENSMUST00000002473
AA Change: E18Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: E18Q

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: ENSMUST00000212383

Predicted Effect

probably benign
Transcript: ENSMUST00000212626

Predicted Effect

probably benign
Transcript: ENSMUST00000212769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213093

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,180 (GRCm39)	W3585R	probably null	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Bcan	G	T	3: 87,901,519 (GRCm39)	S394R	probably damaging	Het
Birc6	T	A	17: 74,999,232 (GRCm39)	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,209,832 (GRCm39)	H559Q	probably benign	Het
Cars2	G	T	8: 11,580,430 (GRCm39)		probably null	Het
Ccdc93	T	A	1: 121,389,712 (GRCm39)		probably benign	Het
Ccna2	C	A	3: 36,624,879 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,803,037 (GRCm39)	L326I	probably damaging	Het
Cdh23	A	T	10: 60,255,478 (GRCm39)		probably benign	Het
Cenpe	T	A	3: 134,976,661 (GRCm39)	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,936 (GRCm39)	M295V	probably benign	Het
Cxcl2	A	G	5: 91,051,871 (GRCm39)	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,291,181 (GRCm39)	T370A	probably damaging	Het
Daam2	A	G	17: 49,803,148 (GRCm39)		probably benign	Het
Dclk3	T	C	9: 111,298,276 (GRCm39)	F607L	probably damaging	Het
Des	T	G	1: 75,337,230 (GRCm39)	S57A	probably benign	Het
Drd1	A	T	13: 54,206,964 (GRCm39)	S410T	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fanci	T	C	7: 79,082,941 (GRCm39)	L639P	probably damaging	Het
Fancm	A	G	12: 65,140,463 (GRCm39)	E395G	probably benign	Het
Grik3	A	G	4: 125,601,790 (GRCm39)	D889G	probably benign	Het
Heyl	A	G	4: 123,135,192 (GRCm39)	S62G	probably damaging	Het
Hmox1	C	T	8: 75,826,577 (GRCm39)	P267L	probably damaging	Het
Ifi213	A	C	1: 173,394,784 (GRCm39)	S584A	probably benign	Het
Il12rb2	G	T	6: 67,333,576 (GRCm39)	F234L	probably benign	Het
Il4i1	T	A	7: 44,488,811 (GRCm39)	S233T	probably damaging	Het
Itga4	A	G	2: 79,146,032 (GRCm39)	S745G	probably benign	Het
Kalrn	T	A	16: 33,830,918 (GRCm39)	I734F	possibly damaging	Het
Klk1b16	T	C	7: 43,790,425 (GRCm39)	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,461,117 (GRCm39)	M581K	probably benign	Het
M6pr	A	T	6: 122,292,033 (GRCm39)	I122L	probably benign	Het
Magi3	T	C	3: 103,954,169 (GRCm39)		probably benign	Het
Mybpc2	T	G	7: 44,163,111 (GRCm39)	T480P	probably benign	Het
Or14c44	T	C	7: 86,061,575 (GRCm39)	S43P	probably benign	Het
Or1j17	A	G	2: 36,578,770 (GRCm39)	Y252C	probably damaging	Het
Or51ab3	A	T	7: 103,201,372 (GRCm39)	I127F	possibly damaging	Het
Or8g23	T	C	9: 38,971,437 (GRCm39)	N175S	probably benign	Het
Pcx	T	A	19: 4,669,114 (GRCm39)	I704N	probably damaging	Het
Pde3a	G	T	6: 141,404,824 (GRCm39)	A350S	probably damaging	Het
Ppox	A	T	1: 171,107,580 (GRCm39)		probably benign	Het
Prb1a	T	A	6: 132,185,507 (GRCm39)	Y42F	unknown	Het
Rsph4a	T	A	10: 33,785,727 (GRCm39)	V546E	probably damaging	Het
Saxo4	T	C	19: 10,458,770 (GRCm39)	T87A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,860,693 (GRCm39)		probably null	Het
Slc22a2	T	C	17: 12,803,298 (GRCm39)	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,026,223 (GRCm39)	D334V	probably damaging	Het
Smim19	T	C	8: 22,953,352 (GRCm39)	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,588 (GRCm39)	T233A	probably damaging	Het
St8sia5	G	A	18: 77,299,460 (GRCm39)		probably null	Het
Stk32a	C	A	18: 43,376,149 (GRCm39)	Q73K	probably benign	Het
Tmem129	G	T	5: 33,815,100 (GRCm39)		probably null	Het
Traf3ip3	A	T	1: 192,860,599 (GRCm39)	L441Q	probably damaging	Het
Ttn	C	T	2: 76,731,305 (GRCm39)		probably benign	Het
Unc45b	T	C	11: 82,808,672 (GRCm39)	S253P	possibly damaging	Het
Vars2	A	G	17: 35,977,150 (GRCm39)		probably benign	Het
Vmn2r51	C	T	7: 9,836,372 (GRCm39)	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 9,836,373 (GRCm39)	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,465,127 (GRCm39)	I379V	possibly 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
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
R4935:Babam1	UTSW	8	71,852,446 (GRCm39)	missense	probably benign	0.33
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'- TCGTCCTGTGTAAACAGCGGAAAG -3'
(R):5'- CCTCAGATGCTGATGCTGGTACTTG -3'

Sequencing Primer
(F):5'- agaaaacgaaaaaacttacttcacc -3'
(R):5'- CTGGTACTTGCCAGGGCTTAG -3'

Posted On

2014-04-13