Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Kctd11'

232061

Institutional Source

Beutler Lab

Gene Symbol

Kctd11

Ensembl Gene

ENSMUSG00000046731

Gene Name

potassium channel tetramerisation domain containing 11

Synonyms

Ren

MMRRC Submission

040099-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69769090-69771811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69770402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 212 (D212V)

Ref Sequence

ENSEMBL: ENSMUSP00000059107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000050555] [ENSMUST00000108622] [ENSMUST00000178597]

AlphaFold

Q8K485

Predicted Effect

probably benign
Transcript: ENSMUST00000001631

SMART Domains

Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588

Domain	Start	End	E-Value	Type
Pfam:BAR_3	5	240	2.1e-68	PFAM
PH	266	362	4.42e-15	SMART
ArfGap	405	527	2.42e-50	SMART
ANK	606	635	4.01e0	SMART
ANK	639	668	3.04e0	SMART
ANK	672	702	4.18e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000050555
AA Change: D212V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059107
Gene: ENSMUSG00000046731
AA Change: D212V

Domain	Start	End	E-Value	Type
Pfam:BTB_2	1	73	1.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108622

SMART Domains

Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588

Domain	Start	End	E-Value	Type
PH	78	174	4.42e-15	SMART
ArfGap	217	339	2.42e-50	SMART
ANK	418	447	4.01e0	SMART
ANK	451	480	3.04e0	SMART
ANK	484	514	4.18e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127238

Predicted Effect

probably benign
Transcript: ENSMUST00000178597

SMART Domains

Protein: ENSMUSP00000137492
Gene: ENSMUSG00000094845

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:TMEM95	17	168	3.9e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198919

Meta Mutation Damage Score

0.3793

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,668,744 (GRCm39)	D190E	probably benign	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Cyp3a57	A	T	5: 145,305,944 (GRCm39)	K143*	probably null	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or1e22	T	A	11: 73,377,420 (GRCm39)	T77S	probably damaging	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Trpv6	C	T	6: 41,598,690 (GRCm39)	R645Q	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	probably damaging	Het

Other mutations in Kctd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0240:Kctd11	UTSW	11	69,770,640 (GRCm39)	missense	probably damaging	0.99
R0240:Kctd11	UTSW	11	69,770,640 (GRCm39)	missense	probably damaging	0.99
R5941:Kctd11	UTSW	11	69,770,799 (GRCm39)	missense	possibly damaging	0.91
R7072:Kctd11	UTSW	11	69,770,621 (GRCm39)	missense	probably benign	0.00
R7079:Kctd11	UTSW	11	69,770,847 (GRCm39)	missense	probably damaging	1.00
R7558:Kctd11	UTSW	11	69,770,416 (GRCm39)	missense	probably benign	0.10
R8075:Kctd11	UTSW	11	69,771,095 (GRCm39)	unclassified	probably benign
R8288:Kctd11	UTSW	11	69,770,883 (GRCm39)	missense	probably damaging	1.00
R8496:Kctd11	UTSW	11	69,770,877 (GRCm39)	missense	probably damaging	1.00
R9185:Kctd11	UTSW	11	69,770,676 (GRCm39)	missense	possibly damaging	0.86
R9400:Kctd11	UTSW	11	69,770,544 (GRCm39)	nonsense	probably null
R9798:Kctd11	UTSW	11	69,770,732 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAATCCCTGACTTTCATAGC -3'
(R):5'- GCAACAGATTTGGTGTGGCC -3'

Sequencing Primer
(F):5'- TTTCATAGCTACCACACCAGTACTAG -3'
(R):5'- AAGGAGGTCCACATTTTCGGC -3'

Posted On

2014-09-18