Mutagenetix > Incidental Mutation

Incidental Mutation 'R7967:Babam1'

650422

Institutional Source

Beutler Lab

Gene Symbol

Babam1

Ensembl Gene

ENSMUSG00000031820

Gene Name

BRISC and BRCA1 A complex member 1

Synonyms

5430437P03Rik

MMRRC Submission

046010-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R7967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71849505-71857263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71856999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 320 (L320Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002473 (fasta)

Gene Model

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

AlphaFold

Q3UI43

Predicted Effect

probably damaging
Transcript: ENSMUST00000002473
AA Change: L320Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: L320Q

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

probably benign
Transcript: ENSMUST00000212769

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,169 (GRCm39)	H228R	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atp11b	C	A	3: 35,895,192 (GRCm39)	T910K	probably benign	Het
C530025M09Rik	G	A	2: 149,672,974 (GRCm39)	R54C	unknown	Het
Cfap251	G	A	5: 123,421,579 (GRCm39)	R644H	possibly damaging	Het
Cilp	A	T	9: 65,185,494 (GRCm39)	I530F	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dgkh	A	G	14: 78,857,256 (GRCm39)	V302A	probably benign	Het
Eps8l3	A	G	3: 107,798,604 (GRCm39)	K497E	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Exosc10	A	G	4: 148,649,121 (GRCm39)	D337G	probably damaging	Het
Fabp3	A	T	4: 130,207,781 (GRCm39)	H94L	probably damaging	Het
Flrt3	T	A	2: 140,501,811 (GRCm39)	K606*	probably null	Het
Grm5	A	G	7: 87,624,569 (GRCm39)	T379A	probably damaging	Het
Hecw1	T	A	13: 14,552,332 (GRCm39)	Y89F	probably damaging	Het
Hoxd8	T	C	2: 74,536,378 (GRCm39)	S163P	probably damaging	Het
Itih4	T	A	14: 30,614,370 (GRCm39)	I440N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,461 (GRCm39)	D2236G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl31	G	A	9: 77,557,430 (GRCm39)	E49K	probably damaging	Het
Mmp10	A	G	9: 7,504,116 (GRCm39)	Y185C	probably damaging	Het
Mtus2	A	T	5: 148,014,656 (GRCm39)	E483V	probably benign	Het
Myh7b	A	G	2: 155,456,119 (GRCm39)		probably null	Het
Or12e13	C	T	2: 87,663,863 (GRCm39)	P160L	possibly damaging	Het
Orc3	A	T	4: 34,598,645 (GRCm39)	M187K	probably damaging	Het
Pcdhb15	A	G	18: 37,607,902 (GRCm39)	N378S	probably damaging	Het
Pgm2l1	A	C	7: 99,910,854 (GRCm39)	H266P	probably damaging	Het
Pld5	A	T	1: 176,102,264 (GRCm39)	D59E	probably benign	Het
Ppp2r2c	A	G	5: 37,097,450 (GRCm39)	D212G	possibly damaging	Het
Prorp	G	A	12: 55,350,979 (GRCm39)	G96D	probably benign	Het
Rccd1	G	A	7: 79,968,657 (GRCm39)	S301L	possibly damaging	Het
Shbg	T	A	11: 69,505,813 (GRCm39)	D398V	probably benign	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tecta	G	A	9: 42,289,251 (GRCm39)	T438M	possibly damaging	Het
Trpm6	A	T	19: 18,756,023 (GRCm39)	I89F	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ugt2b36	C	A	5: 87,214,236 (GRCm39)	M469I	probably damaging	Het
Zfp599	A	G	9: 22,160,830 (GRCm39)	V445A	possibly damaging	Het
Zmym6	T	C	4: 127,016,453 (GRCm39)	C745R	probably benign	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
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
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'- CTGCCTCCACAGGACATGTTTG -3'
(R):5'- TAACAGGTCTCAGTGAGCCC -3'

Sequencing Primer
(F):5'- CACAGGACATGTTTGCCTTCATGG -3'
(R):5'- GTCTCAGTGAGCCCAAAGTGAC -3'

Posted On

2020-09-15