Mutagenetix > Incidental Mutations

Incidental Mutation 'R0077:Krba1'

19474

Institutional Source

Beutler Lab

Gene Symbol

Krba1

Ensembl Gene

ENSMUSG00000042810

Gene Name

KRAB-A domain containing 1

Synonyms

A930040G15Rik

MMRRC Submission

038364-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0077 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

48395586-48419781 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 48405225 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031815] [ENSMUST00000077093] [ENSMUST00000114571] [ENSMUST00000114572] [ENSMUST00000203371]

Predicted Effect

probably benign
Transcript: ENSMUST00000031815

SMART Domains

Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
KRBA1	154	197	1.27e-3	SMART
KRBA1	249	291	3.23e-14	SMART
KRBA1	310	355	8.27e-12	SMART
KRBA1	357	399	4.98e-6	SMART
low complexity region	452	459	N/A	INTRINSIC
KRBA1	474	516	6.03e-14	SMART
KRBA1	576	619	7.71e-12	SMART
coiled coil region	814	847	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077093

SMART Domains

Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	2e-12	BLAST
KRBA1	98	141	1.27e-3	SMART
KRBA1	193	235	3.23e-14	SMART
KRBA1	254	299	8.27e-12	SMART
KRBA1	367	409	7.26e-8	SMART
low complexity region	462	469	N/A	INTRINSIC
KRBA1	484	526	6.03e-14	SMART
KRBA1	586	629	7.71e-12	SMART
coiled coil region	824	857	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114571

SMART Domains

Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	2e-12	BLAST
KRBA1	98	141	1.27e-3	SMART
KRBA1	193	235	3.23e-14	SMART
KRBA1	254	299	8.27e-12	SMART
KRBA1	367	409	7.26e-8	SMART
low complexity region	462	469	N/A	INTRINSIC
KRBA1	484	526	6.03e-14	SMART
KRBA1	586	629	7.71e-12	SMART
coiled coil region	824	857	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114572

SMART Domains

Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	2e-12	BLAST
KRBA1	98	141	1.27e-3	SMART
KRBA1	194	236	3.23e-14	SMART
KRBA1	255	300	8.27e-12	SMART
KRBA1	368	410	7.26e-8	SMART
low complexity region	463	470	N/A	INTRINSIC
KRBA1	485	527	6.03e-14	SMART
KRBA1	587	630	7.71e-12	SMART
coiled coil region	825	858	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154536

Predicted Effect

probably benign
Transcript: ENSMUST00000203371

SMART Domains

Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	2e-12	BLAST
KRBA1	97	140	8.1e-8	SMART
KRBA1	193	235	2.5e-18	SMART
KRBA1	254	299	6.4e-16	SMART
KRBA1	367	409	5.7e-12	SMART
low complexity region	462	469	N/A	INTRINSIC
KRBA1	484	526	4.6e-18	SMART
KRBA1	586	629	5.8e-16	SMART
coiled coil region	824	857	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204308

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,771,685		probably benign	Het
Adgrl4	A	G	3: 151,517,781	I624V	probably damaging	Het
AI661453	A	G	17: 47,469,362		probably benign	Het
Alg12	C	T	15: 88,815,978	E60K	probably damaging	Het
Angel2	A	T	1: 190,933,087	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,140,167	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,321,612	D61E	probably damaging	Het
Bpi	T	A	2: 158,261,334	M83K	probably damaging	Het
Capn7	A	G	14: 31,368,115	I642V	probably benign	Het
Ccdc134	T	C	15: 82,131,737		probably benign	Het
Ccr3	C	T	9: 124,029,024	T132I	probably damaging	Het
Cfap65	C	A	1: 74,931,918	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,047,384	I218K	unknown	Het
Ddx23	A	G	15: 98,656,600		probably null	Het
Dmkn	A	G	7: 30,765,294	S231G	probably benign	Het
Ep300	T	C	15: 81,641,313	I1446T	unknown	Het
Fmnl1	T	C	11: 103,189,969	F318S	probably damaging	Het
Grik5	A	T	7: 25,023,380	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,214,083	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,868,831		probably benign	Het
Hspb7	A	G	4: 141,424,047	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,322,702	N884I	probably benign	Het
Krt18	G	T	15: 102,030,974	R294L	probably benign	Het
Lctl	T	A	9: 64,122,107	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375	S535F	possibly damaging	Het
Lrba	A	C	3: 86,542,688	N2105H	probably damaging	Het
Lrrc10	A	G	10: 117,045,514	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,243,872	V104E	probably damaging	Het
Mgat3	C	T	15: 80,212,577	T535I	probably benign	Het
Nav3	T	C	10: 109,716,642	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,446,831	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,188,255	F441I	probably benign	Het
Obscn	A	G	11: 59,051,521		probably benign	Het
Olfr221	T	C	14: 52,035,985	N42S	possibly damaging	Het
Olfr444	T	C	6: 42,955,773	S92P	probably benign	Het
Olfr59	T	C	11: 74,288,675	F10L	probably benign	Het
Olfr688	T	C	7: 105,288,519	V142A	probably damaging	Het
Osr1	A	T	12: 9,579,691	Y188F	probably damaging	Het
Pak2	A	T	16: 32,033,843	N293K	possibly damaging	Het
Pappa	A	T	4: 65,307,812	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,753,126	Q679*	probably null	Het
Pik3r5	T	A	11: 68,486,622		probably null	Het
Plbd2	C	T	5: 120,486,039		probably null	Het
Ppp1r3a	G	T	6: 14,754,517	P244T	possibly damaging	Het
Pum1	C	A	4: 130,772,674	R960S	probably benign	Het
Ralgapb	T	C	2: 158,473,249	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,758,835	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,760,037	I34F	probably damaging	Het
Rgl3	T	A	9: 21,974,102	Q644L	probably benign	Het
Rpap2	T	C	5: 107,620,474	S393P	probably damaging	Het
Rsad2	T	C	12: 26,456,377	S15G	probably damaging	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
S100a11	A	C	3: 93,524,202		probably null	Het
Sept4	T	C	11: 87,581,196	S11P	probably benign	Het
Serpina1c	T	C	12: 103,896,091	S322G	probably benign	Het
Setdb1	A	T	3: 95,341,451	C385S	probably damaging	Het
Shank2	A	T	7: 144,192,467	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,686,301		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tbcd	C	A	11: 121,594,274	Q761K	probably benign	Het
Tmed6	C	T	8: 107,065,566	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,702	T18A	probably benign	Het
Tsc1	T	A	2: 28,678,943		probably benign	Het
Ube2m	T	C	7: 13,035,730	N49D	probably damaging	Het
Ubqlnl	T	C	7: 104,150,047	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,715,405	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,875,867	R24S	probably benign	Het
Wfs1	C	A	5: 36,973,194	S236I	probably damaging	Het
Xpot	A	T	10: 121,605,639	N560K	probably benign	Het
Yipf3	A	G	17: 46,251,577	T303A	probably benign	Het
Zfp790	T	C	7: 29,824,875	W19R	probably damaging	Het
Zfp846	T	C	9: 20,594,007	C388R	probably benign	Het
Zpr1	T	A	9: 46,273,336	I47N	probably damaging	Het

Other mutations in Krba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Krba1	APN	6	48406318	missense	possibly damaging	0.95
IGL01663:Krba1	APN	6	48411754	missense	probably damaging	0.99
IGL01764:Krba1	APN	6	48415836	missense	probably benign	0.01
IGL02036:Krba1	APN	6	48415642	missense	possibly damaging	0.95
IGL02333:Krba1	APN	6	48413087	missense	probably damaging	0.99
IGL02681:Krba1	APN	6	48404118	missense	probably damaging	1.00
IGL03069:Krba1	APN	6	48414549	missense	possibly damaging	0.53
IGL03380:Krba1	APN	6	48403453	missense	possibly damaging	0.53
PIT4151001:Krba1	UTSW	6	48402897	missense	probably damaging	0.99
R0504:Krba1	UTSW	6	48416254	missense	probably benign	0.07
R1051:Krba1	UTSW	6	48413398	missense	possibly damaging	0.82
R1875:Krba1	UTSW	6	48414049	splice site	probably null
R1912:Krba1	UTSW	6	48415765	missense	probably benign	0.45
R2084:Krba1	UTSW	6	48414568	missense	probably damaging	1.00
R4035:Krba1	UTSW	6	48411680	missense	probably damaging	1.00
R4291:Krba1	UTSW	6	48415665	missense	possibly damaging	0.93
R4568:Krba1	UTSW	6	48409723	missense	probably damaging	0.98
R4619:Krba1	UTSW	6	48406348	nonsense	probably null
R4638:Krba1	UTSW	6	48409751	nonsense	probably null
R4913:Krba1	UTSW	6	48406957	missense	probably benign	0.00
R5174:Krba1	UTSW	6	48412295	missense	probably damaging	1.00
R5487:Krba1	UTSW	6	48404039	missense	probably damaging	1.00
R5496:Krba1	UTSW	6	48406356	missense	possibly damaging	0.54
R5514:Krba1	UTSW	6	48413495	missense	probably damaging	1.00
R5879:Krba1	UTSW	6	48415744	missense	possibly damaging	0.89
R6351:Krba1	UTSW	6	48414128	missense	probably benign	0.35
R6516:Krba1	UTSW	6	48413272	nonsense	probably null
R7003:Krba1	UTSW	6	48413080	missense	possibly damaging	0.71
R7135:Krba1	UTSW	6	48416299	missense	probably benign	0.01
R7202:Krba1	UTSW	6	48412327	missense	probably damaging	1.00
R7308:Krba1	UTSW	6	48406339	missense	probably benign	0.04
R7936:Krba1	UTSW	6	48411669	missense	probably damaging	1.00
Z1177:Krba1	UTSW	6	48413256	missense	probably damaging	1.00
Z1177:Krba1	UTSW	6	48415894	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCTGTGTGAACTGTGTCAATCC -3'
(R):5'- AGGTCAGACTCACTAGCAGGTAAGG -3'

Sequencing Primer
(F):5'- acacaaaaaccctatctcaaaaaac -3'
(R):5'- AAGTTGAGCTGCCTGTGG -3'

Posted On

2013-04-11