Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Krba1'

567386

Institutional Source

Beutler Lab

Gene Symbol

Krba1

Ensembl Gene

ENSMUSG00000042810

Gene Name

KRAB-A domain containing 1

Synonyms

A930040G15Rik

MMRRC Submission

045323-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48372520-48396715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48383273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 203 (V203A)

Ref Sequence

ENSEMBL: ENSMUSP00000110219 (fasta)

Gene Model

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

AlphaFold

Q6NXZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000031815
AA Change: V223A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: V223A

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
AA Change: V168A

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: V168A

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
AA Change: V168A

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: V168A

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
AA Change: V203A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: V203A

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

probably benign
Transcript: ENSMUST00000203371
AA Change: V167A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: V167A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,022,993 (GRCm39)	I43T	probably benign	Het
Ankar	G	A	1: 72,690,953 (GRCm39)	Q1175*	probably null	Het
Aqr	G	A	2: 113,934,543 (GRCm39)	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 79,862,392 (GRCm39)		probably null	Het
Atf7ip	T	A	6: 136,542,087 (GRCm39)	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,795,464 (GRCm39)		probably benign	Het
Bcar3	T	A	3: 122,302,142 (GRCm39)	V279E	probably benign	Het
Cd96	C	T	16: 45,892,097 (GRCm39)		probably null	Het
Cdca2	G	A	14: 67,932,440 (GRCm39)	P488S	probably benign	Het
Cfhr4	A	G	1: 139,682,041 (GRCm39)	V185A	possibly damaging	Het
Col4a2	T	G	8: 11,456,856 (GRCm39)		probably null	Het
Cyp4a12a	A	G	4: 115,184,955 (GRCm39)	R379G	possibly damaging	Het
Defb34	A	G	8: 19,176,395 (GRCm39)	S29G	probably benign	Het
Dnah11	A	G	12: 117,959,010 (GRCm39)	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,631,596 (GRCm39)	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,206,015 (GRCm39)	H84L	probably benign	Het
Enah	A	T	1: 181,733,950 (GRCm39)		probably null	Het
Fam178b	G	T	1: 36,698,488 (GRCm39)	Q78K	probably benign	Het
Glb1	A	G	9: 114,302,931 (GRCm39)	N589S	probably damaging	Het
Gm1527	C	T	3: 28,956,429 (GRCm39)	H132Y	probably benign	Het
Gm5799	A	G	14: 43,781,164 (GRCm39)	R22G	possibly damaging	Het
Grip2	T	C	6: 91,755,669 (GRCm39)	D617G	possibly damaging	Het
Hax1	A	T	3: 89,905,873 (GRCm39)	D5E	possibly damaging	Het
Hic1	A	G	11: 75,057,977 (GRCm39)	L304P	probably damaging	Het
Hmox1	T	A	8: 75,823,647 (GRCm39)	I105N	probably damaging	Het
Hormad1	T	C	3: 95,469,866 (GRCm39)	S38P	probably damaging	Het
Hspa4	A	G	11: 53,157,930 (GRCm39)	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,224,730 (GRCm39)	H497L	probably benign	Het
Kcnma1	C	T	14: 23,381,003 (GRCm39)	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,790,475 (GRCm39)	F479S	possibly damaging	Het
Lct	G	T	1: 128,246,824 (GRCm39)	P233Q	probably benign	Het
Ly75	T	C	2: 60,164,859 (GRCm39)	D773G	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Man1a2	A	T	3: 100,527,421 (GRCm39)	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Myof	A	T	19: 37,899,359 (GRCm39)	S1800R	probably damaging	Het
Nbea	A	C	3: 55,998,452 (GRCm39)	C118W	probably damaging	Het
Nsd3	A	T	8: 26,130,740 (GRCm39)	D35V	probably damaging	Het
Ntaq1	T	C	15: 58,016,006 (GRCm39)	V85A	possibly damaging	Het
Or11g24	G	A	14: 50,662,722 (GRCm39)	V249I	possibly damaging	Het
Or2y1c	G	A	11: 49,360,754 (GRCm39)		probably benign	Het
Pcnx3	C	T	19: 5,736,175 (GRCm39)	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,159,007 (GRCm39)	P462L	probably benign	Het
Pdia5	T	G	16: 35,276,879 (GRCm39)	K96N	probably damaging	Het
Pik3c2a	T	C	7: 115,973,074 (GRCm39)	Y707C	probably damaging	Het
Ppig	A	T	2: 69,579,806 (GRCm39)	N447Y	unknown	Het
Ppp1r9b	T	C	11: 94,895,397 (GRCm39)	L695P	possibly damaging	Het
Proser1	C	T	3: 53,386,125 (GRCm39)	A669V	probably benign	Het
Rdx	A	T	9: 51,980,170 (GRCm39)	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,705,294 (GRCm39)	S95P	probably benign	Het
Slc4a3	T	A	1: 75,534,006 (GRCm39)	S1118T	probably benign	Het
Slf1	G	A	13: 77,199,287 (GRCm39)	P698L	probably benign	Het
Sptbn2	A	G	19: 4,801,602 (GRCm39)	E2338G	probably benign	Het
Taok3	T	A	5: 117,338,216 (GRCm39)	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,816,212 (GRCm39)	L649F	probably damaging	Het
Tdpoz8	A	G	3: 92,981,872 (GRCm39)	T223A	probably benign	Het
Tmem132b	A	T	5: 125,864,710 (GRCm39)	I939F	possibly damaging	Het
Trav17	T	A	14: 54,044,436 (GRCm39)	Y69N	probably benign	Het
Trmt13	T	C	3: 116,388,388 (GRCm39)	D16G	probably benign	Het
Upf2	T	A	2: 5,978,329 (GRCm39)	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875 (GRCm39)	T180A	probably benign	Het
Zfp738	A	T	13: 67,817,672 (GRCm39)	I773N	probably benign	Het
Zscan4e	A	T	7: 11,041,080 (GRCm39)	M264K	probably benign	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
R5174:Krba1	UTSW	6	48,389,229 (GRCm39)	missense	probably damaging	1.00
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
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'- GCATTTGGCATGAACCAGTCTTAG -3'
(R):5'- GTTGGGTGAGTGACATGACC -3'

Sequencing Primer
(F):5'- ATCTTCCAAAGATGGCCCTAG -3'
(R):5'- GTGAGTGACATGACCTTCACTGAC -3'

Posted On

2019-06-26