Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Krba1'

552991

Institutional Source

Beutler Lab

Gene Symbol

Krba1

Ensembl Gene

ENSMUSG00000042810

Gene Name

KRAB-A domain containing 1

Synonyms

A930040G15Rik

MMRRC Submission

045247-MU

Accession Numbers

Essential gene?

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

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48372520-48396715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48393233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1049 (Q1049R)

Ref Sequence

ENSEMBL: ENSMUSP00000110219 (fasta)

Gene Model

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

AlphaFold

Q6NXZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031815
AA Change: Q1003R

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: Q1003R

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: Q1014R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: Q1014R

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: Q1014R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: Q1014R

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: Q1049R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: Q1049R

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: Q1013R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: Q1013R

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	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
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'- GTTCATCCCAGCAGATCTCC -3'
(R):5'- AAGAGCCAGACTTGCAGCAG -3'

Sequencing Primer
(F):5'- AGATCTCCTCTACGCCTGGAG -3'
(R):5'- GCAGACAGCCTGGGATG -3'

Posted On

2019-05-15