Mutagenetix > Incidental Mutations

Incidental Mutation 'R5496:Krba1'

432343

Institutional Source

Beutler Lab

Gene Symbol

Krba1

Ensembl Gene

ENSMUSG00000042810

Gene Name

KRAB-A domain containing 1

Synonyms

A930040G15Rik

MMRRC Submission

043057-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5496 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

48395586-48419781 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48406356 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000031815 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031815
AA Change: T229A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: T229A

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: T174A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: T174A

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: T174A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: T174A

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: T209A

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: T209A

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

possibly damaging
Transcript: ENSMUST00000203371
AA Change: T173A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: T173A

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: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,674,818	V84I	probably benign	Het
Adam10	T	G	9: 70,722,739	F151C	probably damaging	Het
Akap6	A	G	12: 53,140,653	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,967,614		probably null	Het
Atmin	A	G	8: 116,957,172	T524A	probably benign	Het
Bicra	C	T	7: 15,987,841	V584I	probably benign	Het
Carmil1	G	A	13: 24,155,450	R54C	probably damaging	Het
Cbln1	A	G	8: 87,471,696	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,563,363	V40A	probably benign	Het
Cdh7	T	A	1: 110,048,917	I104N	probably damaging	Het
Cdt1	C	T	8: 122,570,500	R311W	probably damaging	Het
Col12a1	A	G	9: 79,602,185		probably benign	Het
Csf2rb	A	G	15: 78,340,561	E173G	probably damaging	Het
Cyb561	A	G	11: 105,937,719	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,467,531	K34M	probably damaging	Het
Diras2	C	T	13: 52,507,750	V174M	probably benign	Het
Dnah7a	T	G	1: 53,457,768	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,860,051	E434G	probably damaging	Het
Ebag9	T	G	15: 44,640,420	*214E	probably null	Het
Egln3	A	T	12: 54,203,324	W80R	probably damaging	Het
Eps15l1	A	G	8: 72,382,775	Y336H	probably benign	Het
Gak	A	G	5: 108,576,617	S1076P	probably benign	Het
Glra1	T	C	11: 55,527,415	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,745,207	M108K	probably damaging	Het
Gm3604	A	T	13: 62,371,579	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,201,157		probably benign	Het
Gmcl1	G	T	6: 86,697,525	A457D	probably damaging	Het
H2-M11	T	C	17: 36,547,979	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,208,520	W3S	probably damaging	Het
Il22	T	G	10: 118,205,097	V36G	possibly damaging	Het
Ints1	G	A	5: 139,755,198	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,630,053	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,609,490	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,913,742	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,730,190	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,784,182	D948G	probably benign	Het
Leprot	T	A	4: 101,657,896	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,927,973	D2415G	probably benign	Het
Maats1	A	G	16: 38,321,493	I359T	probably damaging	Het
Mnd1	T	A	3: 84,088,174	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,098,814	Y339*	probably null	Het
Nfatc2	G	A	2: 168,536,278	T268M	probably damaging	Het
Olfr1097	G	T	2: 86,890,314	P287Q	probably damaging	Het
Olfr1097	G	C	2: 86,890,315	P287A	probably damaging	Het
Olfr116	T	C	17: 37,624,578	D19G	probably benign	Het
Olfr653	G	C	7: 104,580,494	A283P	probably damaging	Het
Pan3	G	A	5: 147,527,128		probably null	Het
Pde6a	A	T	18: 61,253,665		probably null	Het
Prss39	T	C	1: 34,500,261	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,670,347	S507G	probably benign	Het
Rif1	T	C	2: 52,098,916	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Smurf1	C	A	5: 144,882,593	E601*	probably null	Het
Stau2	T	C	1: 16,390,021	S231G	probably damaging	Het
Timp2	T	G	11: 118,303,881	M161L	probably benign	Het
Tlr5	T	C	1: 182,973,632	L167P	probably damaging	Het
Trhr	G	A	15: 44,197,536	A151T	probably benign	Het
Unc13d	A	G	11: 116,066,708	V807A	probably damaging	Het
Usp2	T	C	9: 44,085,208	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,209,779	T447A	probably damaging	Het
Zan	A	G	5: 137,436,345	I2232T	unknown	Het
Zfp12	C	A	5: 143,244,795	C292*	probably null	Het
Zfp850	A	C	7: 28,007,346	M43R	probably damaging	Het
Zic5	G	A	14: 122,459,343	T620M	unknown	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
R0077:Krba1	UTSW	6	48405225	splice site	probably benign
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
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'- GCATTTGGCATGAACCAGTC -3'
(R):5'- ACGTCATGGAGTTCAGTTGG -3'

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

Posted On

2016-10-05