Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Krba1'

398988

Institutional Source

Beutler Lab

Gene Symbol

Krba1

Ensembl Gene

ENSMUSG00000042810

Gene Name

KRAB-A domain containing 1

Synonyms

A930040G15Rik

MMRRC Submission

042754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5174 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

48372520-48396715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48389229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 548 (E548G)

Ref Sequence

ENSEMBL: ENSMUSP00000110218 (fasta)

Gene Model

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

AlphaFold

Q6NXZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031815
AA Change: E537G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: E537G

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 damaging
Transcript: ENSMUST00000077093
AA Change: E548G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: E548G

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 damaging
Transcript: ENSMUST00000114571
AA Change: E548G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: E548G

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 damaging
Transcript: ENSMUST00000114572
AA Change: E583G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: E583G

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: ENSMUST00000148697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154536

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203371
AA Change: E547G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: E547G

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: ENSMUST00000204554

Meta Mutation Damage Score

0.2365

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,728,209 (GRCm39)	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,366,504 (GRCm39)	R451W	probably damaging	Het
Asxl3	A	T	18: 22,656,172 (GRCm39)	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,871,041 (GRCm39)	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,742 (GRCm39)	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,759,665 (GRCm39)	F268L	probably benign	Het
Casp14	C	T	10: 78,551,225 (GRCm39)	G20D	possibly damaging	Het
Celf1	T	C	2: 90,831,353 (GRCm39)	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Cers3	A	T	7: 66,434,616 (GRCm39)	K203M	probably damaging	Het
Clip4	T	C	17: 72,117,957 (GRCm39)	F334S	probably damaging	Het
Cyp2b13	T	A	7: 25,788,118 (GRCm39)	D415E	possibly damaging	Het
Decr2	A	T	17: 26,306,443 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,352,768 (GRCm39)		probably null	Het
Dnah7b	G	A	1: 46,282,509 (GRCm39)	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,502,161 (GRCm39)	H55R	probably benign	Het
Dnajc11	T	C	4: 152,064,441 (GRCm39)	F531L	probably damaging	Het
Efcab6	A	G	15: 83,938,687 (GRCm39)	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,102,455 (GRCm39)	F476S	probably damaging	Het
Fat3	T	C	9: 15,910,866 (GRCm39)	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,893 (GRCm39)	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,811,085 (GRCm39)	P2468L	probably benign	Het
Gm5798	A	G	14: 41,070,620 (GRCm39)	H10R	possibly damaging	Het
Gm7168	A	G	17: 14,168,717 (GRCm39)	Y28C	probably damaging	Het
Gtpbp6	G	A	5: 110,255,983 (GRCm39)	R19C	possibly damaging	Het
Gucy2e	A	G	11: 69,127,392 (GRCm39)	F27S	probably benign	Het
Inhca	C	T	9: 103,159,755 (GRCm39)		probably null	Het
Ltbr	A	G	6: 125,286,500 (GRCm39)	S229P	probably benign	Het
Mgat5b	A	T	11: 116,868,541 (GRCm39)	Y488F	probably benign	Het
Mia3	T	A	1: 183,112,348 (GRCm39)	K475*	probably null	Het
Mrpl53	C	T	6: 83,086,638 (GRCm39)	T114M	possibly damaging	Het
Mrps35	T	C	6: 146,961,709 (GRCm39)	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,570,556 (GRCm39)	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,547,074 (GRCm39)	T150S	possibly damaging	Het
Nox4	T	G	7: 86,972,974 (GRCm39)	I327S	probably benign	Het
Nrk	C	G	X: 137,887,528 (GRCm39)	A1018G	probably benign	Het
Or4c102	T	A	2: 88,422,992 (GRCm39)	N281K	probably damaging	Het
Or4d5	T	C	9: 40,012,043 (GRCm39)	T248A	possibly damaging	Het
Or52ae7	T	A	7: 103,119,610 (GRCm39)	F121L	probably benign	Het
Or5w19	T	A	2: 87,698,755 (GRCm39)	V140E	possibly damaging	Het
Pdzd2	G	A	15: 12,372,600 (GRCm39)	P2512S	probably benign	Het
Ptgis	T	A	2: 167,045,390 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,619,196 (GRCm39)	M140K	probably benign	Het
Scaf4	A	T	16: 90,044,062 (GRCm39)	I637K	unknown	Het
Sdccag8	A	T	1: 176,672,916 (GRCm39)	T270S	probably damaging	Het
Sec24d	T	C	3: 123,158,575 (GRCm39)	C1022R	probably damaging	Het
Sec63	T	C	10: 42,705,077 (GRCm39)		probably benign	Het
Serpinb3d	C	G	1: 107,006,228 (GRCm39)	E287Q	possibly damaging	Het
Silc1	A	T	12: 27,192,027 (GRCm39)		noncoding transcript	Het
Smarcd2	A	G	11: 106,157,871 (GRCm39)		probably benign	Het
Sox15	A	G	11: 69,546,545 (GRCm39)	Y116C	probably damaging	Het
Spag16	T	C	1: 70,532,955 (GRCm39)	S545P	probably damaging	Het
Ssc5d	C	A	7: 4,930,970 (GRCm39)	T184N	possibly damaging	Het
St6galnac2	A	T	11: 116,572,773 (GRCm39)	F228I	probably damaging	Het
Syne1	T	C	10: 4,991,490 (GRCm39)	N8408S	probably damaging	Het
Trank1	A	C	9: 111,194,627 (GRCm39)	T884P	probably benign	Het
Ubr3	T	A	2: 69,839,506 (GRCm39)	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,399,739 (GRCm39)	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,064,739 (GRCm39)	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,048 (GRCm39)	I839L	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het
Zfp319	A	T	8: 96,054,797 (GRCm39)		probably null	Het
Zfp592	T	C	7: 80,688,073 (GRCm39)	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,061,838 (GRCm39)	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,450,828 (GRCm39)	S324P	unknown	Het
Zswim6	G	T	13: 107,863,216 (GRCm39)		noncoding transcript	Het

Other mutations in Krba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Krba1	APN	6	48,383,252 (GRCm39)	missense	possibly damaging	0.95
IGL01663:Krba1	APN	6	48,388,688 (GRCm39)	missense	probably damaging	0.99
IGL01764:Krba1	APN	6	48,392,770 (GRCm39)	missense	probably benign	0.01
IGL02036:Krba1	APN	6	48,392,576 (GRCm39)	missense	possibly damaging	0.95
IGL02333:Krba1	APN	6	48,390,021 (GRCm39)	missense	probably damaging	0.99
IGL02681:Krba1	APN	6	48,381,052 (GRCm39)	missense	probably damaging	1.00
IGL03069:Krba1	APN	6	48,391,483 (GRCm39)	missense	possibly damaging	0.53
IGL03380:Krba1	APN	6	48,380,387 (GRCm39)	missense	possibly damaging	0.53
PIT4151001:Krba1	UTSW	6	48,379,831 (GRCm39)	missense	probably damaging	0.99
R0077:Krba1	UTSW	6	48,382,159 (GRCm39)	splice site	probably benign
R0504:Krba1	UTSW	6	48,393,188 (GRCm39)	missense	probably benign	0.07
R1051:Krba1	UTSW	6	48,390,332 (GRCm39)	missense	possibly damaging	0.82
R1875:Krba1	UTSW	6	48,390,983 (GRCm39)	splice site	probably null
R1912:Krba1	UTSW	6	48,392,699 (GRCm39)	missense	probably benign	0.45
R2084:Krba1	UTSW	6	48,391,502 (GRCm39)	missense	probably damaging	1.00
R4035:Krba1	UTSW	6	48,388,614 (GRCm39)	missense	probably damaging	1.00
R4291:Krba1	UTSW	6	48,392,599 (GRCm39)	missense	possibly damaging	0.93
R4568:Krba1	UTSW	6	48,386,657 (GRCm39)	missense	probably damaging	0.98
R4619:Krba1	UTSW	6	48,383,282 (GRCm39)	nonsense	probably null
R4638:Krba1	UTSW	6	48,386,685 (GRCm39)	nonsense	probably null
R4913:Krba1	UTSW	6	48,383,891 (GRCm39)	missense	probably benign	0.00
R5487:Krba1	UTSW	6	48,380,973 (GRCm39)	missense	probably damaging	1.00
R5496:Krba1	UTSW	6	48,383,290 (GRCm39)	missense	possibly damaging	0.54
R5514:Krba1	UTSW	6	48,390,429 (GRCm39)	missense	probably damaging	1.00
R5879:Krba1	UTSW	6	48,392,678 (GRCm39)	missense	possibly damaging	0.89
R6351:Krba1	UTSW	6	48,391,062 (GRCm39)	missense	probably benign	0.35
R6516:Krba1	UTSW	6	48,390,206 (GRCm39)	nonsense	probably null
R7003:Krba1	UTSW	6	48,390,014 (GRCm39)	missense	possibly damaging	0.71
R7135:Krba1	UTSW	6	48,393,233 (GRCm39)	missense	probably benign	0.01
R7202:Krba1	UTSW	6	48,389,261 (GRCm39)	missense	probably damaging	1.00
R7308:Krba1	UTSW	6	48,383,273 (GRCm39)	missense	probably benign	0.04
R7936:Krba1	UTSW	6	48,388,603 (GRCm39)	missense	probably damaging	1.00
R8750:Krba1	UTSW	6	48,382,212 (GRCm39)	missense	probably damaging	0.97
R8894:Krba1	UTSW	6	48,388,629 (GRCm39)	missense	probably damaging	0.98
R9726:Krba1	UTSW	6	48,389,298 (GRCm39)	missense	possibly damaging	0.91
Z1177:Krba1	UTSW	6	48,392,828 (GRCm39)	missense	probably damaging	1.00
Z1177:Krba1	UTSW	6	48,390,190 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGATTCCATATGGCTTGG -3'
(R):5'- CGTCTATAAGCCGTGCAAGG -3'

Sequencing Primer
(F):5'- CTTGGGTTGGTGCAGCAAC -3'
(R):5'- TGGCTTGACAAAAACTAACTGG -3'

Posted On

2016-07-06