Mutagenetix > Incidental Mutation

Incidental Mutation 'R8702:Kcp'

669110

Institutional Source

Beutler Lab

Gene Symbol

Kcp

Ensembl Gene

ENSMUSG00000059022

Gene Name

kielin/chordin-like protein

Synonyms

Crim2, LOC333088, KCP

MMRRC Submission

068556-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R8702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29473161-29507951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29482750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1440 (C1440S)

Ref Sequence

ENSEMBL: ENSMUSP00000099135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000159479]

AlphaFold

Q3U492

Predicted Effect

probably benign
Transcript: ENSMUST00000078112

SMART Domains

Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1fxkc_	64	91	7e-3	SMART
VWC	136	190	1.41e-13	SMART
VWC	194	250	1.24e-9	SMART
VWC	255	311	4.55e-8	SMART
VWC	314	369	8.88e-11	SMART
VWC	428	484	9.15e-13	SMART
VWC	487	543	7.61e-10	SMART
VWC	546	601	4.05e-5	SMART
VWC	604	660	8.28e-11	SMART
VWC	667	723	6.58e-5	SMART
VWC	726	780	2.14e-4	SMART
VWC	783	839	1.98e-8	SMART
VWC	842	898	1.35e-1	SMART
VWC	901	957	5.77e-10	SMART
VWC	960	1015	1.21e-3	SMART
VWC	1018	1083	2.44e-8	SMART
VWC	1090	1143	1.05e-3	SMART
VWC	1150	1207	2.93e-11	SMART
Pfam:VWD	1214	1254	4.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091391

SMART Domains

Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1fxkc_	64	91	7e-3	SMART
VWC	136	190	1.41e-13	SMART
VWC	194	250	1.24e-9	SMART
VWC	255	311	4.55e-8	SMART
VWC	314	369	8.88e-11	SMART
VWC	428	484	9.15e-13	SMART
VWC	487	543	7.61e-10	SMART
VWC	546	601	4.05e-5	SMART
VWC	604	660	8.28e-11	SMART
VWC	667	723	6.58e-5	SMART
VWC	726	780	2.14e-4	SMART
VWC	783	839	1.98e-8	SMART
VWC	842	898	1.35e-1	SMART
VWC	901	957	5.77e-10	SMART
VWC	960	1015	1.21e-3	SMART
VWC	1018	1082	6.53e-9	SMART
VWC	1089	1142	1.05e-3	SMART
VWC	1149	1206	2.93e-11	SMART
Pfam:VWD	1213	1253	4.6e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000101614
AA Change: C1440S

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

SMART Domains

Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: C1440S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1fxkc_	64	91	8e-3	SMART
VWC	136	190	1.41e-13	SMART
VWC	194	250	1.24e-9	SMART
VWC	255	311	4.55e-8	SMART
VWC	314	369	8.88e-11	SMART
VWC	428	484	9.15e-13	SMART
VWC	487	543	7.61e-10	SMART
VWC	546	601	4.05e-5	SMART
VWC	604	660	8.28e-11	SMART
VWC	667	723	6.58e-5	SMART
VWC	726	780	2.14e-4	SMART
VWC	783	839	1.98e-8	SMART
VWC	842	898	1.35e-1	SMART
VWC	901	957	5.77e-10	SMART
VWC	960	1015	1.21e-3	SMART
VWC	1018	1083	2.44e-8	SMART
VWC	1090	1143	1.05e-3	SMART
VWC	1150	1207	2.93e-11	SMART
VWD	1201	1362	6.09e-50	SMART
C8	1404	1479	1.55e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159479

SMART Domains

Protein: ENSMUSP00000124771
Gene: ENSMUSG00000059022

Domain	Start	End	E-Value	Type
VWC	1	51	4.56e-1	SMART
VWC	54	110	1.98e-8	SMART
VWC	113	169	1.35e-1	SMART
VWC	172	228	5.77e-10	SMART
VWC	231	286	1.21e-3	SMART
VWC	289	353	6.53e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161276

Coding Region Coverage

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

Validation Efficiency

100% (33/33)

MGI Phenotype

PHENOTYPE: Homozygous null mice display increased sensitivity to renal injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,297,415 (GRCm39)	R501G	probably damaging	Het
Arhgap10	A	G	8: 77,985,732 (GRCm39)	F712L	probably benign	Het
Arhgef10	C	A	8: 14,992,638 (GRCm39)	A292E	probably benign	Het
Bub1b	T	A	2: 118,468,975 (GRCm39)	D913E	probably benign	Het
Cfap61	T	C	2: 146,042,710 (GRCm39)	I1161T	probably benign	Het
Cfap91	A	G	16: 38,152,674 (GRCm39)	Y179H	probably benign	Het
Col4a3	A	T	1: 82,688,700 (GRCm39)	T1348S	unknown	Het
Dck	T	A	5: 88,926,272 (GRCm39)	N239K	probably damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Efl1	A	G	7: 82,399,998 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,872,291 (GRCm39)	Q235K	probably benign	Het
Fer1l4	C	A	2: 155,861,310 (GRCm39)	W1952L	probably benign	Het
Fyttd1	A	G	16: 32,704,529 (GRCm39)	K47E	probably damaging	Het
Gm14418	A	T	2: 177,079,015 (GRCm39)	Y327N	probably damaging	Het
Grxcr2	T	C	18: 42,131,754 (GRCm39)	D105G	possibly damaging	Het
Iqub	A	T	6: 24,461,914 (GRCm39)	L506H	probably damaging	Het
Kcnj10	A	G	1: 172,197,127 (GRCm39)	T214A	probably benign	Het
Lrrtm2	G	T	18: 35,346,018 (GRCm39)	A428D	probably damaging	Het
Neb	T	C	2: 52,085,717 (GRCm39)	Y5506C	probably damaging	Het
Nrros	T	A	16: 31,966,589 (GRCm39)		probably benign	Het
Or5d35	T	C	2: 87,855,839 (GRCm39)	F258L	possibly damaging	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Pakap	C	T	4: 57,709,489 (GRCm39)	Q145*	probably null	Het
Pecr	G	T	1: 72,306,661 (GRCm39)	Q207K	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	T	A	10: 39,714,465 (GRCm39)	Y2396*	probably null	Het
Serbp1	G	T	6: 67,244,156 (GRCm39)	D26Y	probably damaging	Het
Sirt3	A	T	7: 140,458,027 (GRCm39)	C41S		Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tcaf2	A	T	6: 42,619,701 (GRCm39)	S109T	probably benign	Het
Tpd52l2	C	T	2: 181,143,749 (GRCm39)	H73Y	probably damaging	Het
Xkr6	G	T	14: 64,057,103 (GRCm39)	W594L	unknown	Het

Other mutations in Kcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Kcp	APN	6	29,482,656 (GRCm39)	missense	probably benign
IGL01344:Kcp	APN	6	29,498,950 (GRCm39)	splice site	probably null
IGL01404:Kcp	APN	6	29,496,638 (GRCm39)	missense	probably damaging	0.99
IGL01735:Kcp	APN	6	29,498,878 (GRCm39)	missense	probably damaging	1.00
IGL01776:Kcp	APN	6	29,497,907 (GRCm39)	missense	probably damaging	1.00
IGL02092:Kcp	APN	6	29,489,031 (GRCm39)	critical splice donor site	probably null
IGL02252:Kcp	APN	6	29,504,548 (GRCm39)	missense	probably damaging	1.00
IGL02690:Kcp	APN	6	29,484,998 (GRCm39)	unclassified	probably benign
IGL02817:Kcp	APN	6	29,496,968 (GRCm39)	missense	probably damaging	0.97
IGL03074:Kcp	APN	6	29,496,630 (GRCm39)	missense	probably damaging	1.00
P0045:Kcp	UTSW	6	29,498,347 (GRCm39)	missense	probably damaging	1.00
R0219:Kcp	UTSW	6	29,495,784 (GRCm39)	missense	probably damaging	1.00
R0355:Kcp	UTSW	6	29,496,926 (GRCm39)	missense	possibly damaging	0.89
R0738:Kcp	UTSW	6	29,490,438 (GRCm39)	missense	probably benign	0.24
R1111:Kcp	UTSW	6	29,485,422 (GRCm39)	missense	probably benign
R1304:Kcp	UTSW	6	29,501,291 (GRCm39)	unclassified	probably benign
R1663:Kcp	UTSW	6	29,498,964 (GRCm39)	missense	possibly damaging	0.68
R1808:Kcp	UTSW	6	29,505,654 (GRCm39)	missense	probably benign	0.05
R1907:Kcp	UTSW	6	29,497,834 (GRCm39)	unclassified	probably benign
R2030:Kcp	UTSW	6	29,489,071 (GRCm39)	missense	probably damaging	1.00
R2099:Kcp	UTSW	6	29,496,164 (GRCm39)	nonsense	probably null
R3411:Kcp	UTSW	6	29,482,845 (GRCm39)	missense	possibly damaging	0.68
R3982:Kcp	UTSW	6	29,484,636 (GRCm39)	missense	probably damaging	1.00
R3983:Kcp	UTSW	6	29,484,636 (GRCm39)	missense	probably damaging	1.00
R4223:Kcp	UTSW	6	29,482,257 (GRCm39)	missense	possibly damaging	0.55
R4377:Kcp	UTSW	6	29,493,202 (GRCm39)	missense	probably damaging	1.00
R4570:Kcp	UTSW	6	29,491,847 (GRCm39)	nonsense	probably null
R4624:Kcp	UTSW	6	29,482,813 (GRCm39)	missense	possibly damaging	0.94
R4694:Kcp	UTSW	6	29,493,196 (GRCm39)	missense	probably benign	0.29
R4750:Kcp	UTSW	6	29,484,625 (GRCm39)	missense	probably benign	0.03
R4968:Kcp	UTSW	6	29,497,628 (GRCm39)	nonsense	probably null
R5053:Kcp	UTSW	6	29,496,957 (GRCm39)	missense	probably benign	0.01
R5067:Kcp	UTSW	6	29,492,107 (GRCm39)	missense	probably benign	0.06
R5253:Kcp	UTSW	6	29,498,519 (GRCm39)	unclassified	probably benign
R5418:Kcp	UTSW	6	29,504,283 (GRCm39)	nonsense	probably null
R6020:Kcp	UTSW	6	29,502,863 (GRCm39)	missense	probably benign	0.03
R6033:Kcp	UTSW	6	29,493,193 (GRCm39)	missense	probably damaging	1.00
R6033:Kcp	UTSW	6	29,493,193 (GRCm39)	missense	probably damaging	1.00
R6088:Kcp	UTSW	6	29,502,631 (GRCm39)	missense	probably benign
R6178:Kcp	UTSW	6	29,482,887 (GRCm39)	missense	possibly damaging	0.68
R6285:Kcp	UTSW	6	29,502,364 (GRCm39)	missense	probably benign	0.21
R6310:Kcp	UTSW	6	29,493,257 (GRCm39)	missense	probably damaging	0.98
R6369:Kcp	UTSW	6	29,484,693 (GRCm39)	missense	probably damaging	1.00
R6860:Kcp	UTSW	6	29,505,719 (GRCm39)	missense	probably benign	0.19
R6949:Kcp	UTSW	6	29,484,611 (GRCm39)	splice site	probably null
R6962:Kcp	UTSW	6	29,482,839 (GRCm39)	missense	probably benign	0.08
R7006:Kcp	UTSW	6	29,499,169 (GRCm39)	missense	probably damaging	1.00
R7138:Kcp	UTSW	6	29,491,861 (GRCm39)	nonsense	probably null
R7141:Kcp	UTSW	6	29,487,511 (GRCm39)	nonsense	probably null
R7153:Kcp	UTSW	6	29,499,014 (GRCm39)	missense	probably damaging	1.00
R7162:Kcp	UTSW	6	29,497,199 (GRCm39)	splice site	probably null
R7334:Kcp	UTSW	6	29,485,511 (GRCm39)	missense	probably damaging	1.00
R7565:Kcp	UTSW	6	29,499,186 (GRCm39)	missense	probably damaging	1.00
R7671:Kcp	UTSW	6	29,496,516 (GRCm39)	missense	probably benign	0.02
R7766:Kcp	UTSW	6	29,496,846 (GRCm39)	missense	probably damaging	0.98
R7781:Kcp	UTSW	6	29,497,764 (GRCm39)	missense	probably damaging	1.00
R9384:Kcp	UTSW	6	29,496,618 (GRCm39)	critical splice donor site	probably null
R9425:Kcp	UTSW	6	29,489,151 (GRCm39)	missense	probably benign
R9553:Kcp	UTSW	6	29,485,100 (GRCm39)	missense	probably null	1.00
R9752:Kcp	UTSW	6	29,497,754 (GRCm39)	missense	probably damaging	1.00
R9755:Kcp	UTSW	6	29,492,460 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcp	UTSW	6	29,485,011 (GRCm39)	missense	probably benign	0.23
Z1177:Kcp	UTSW	6	29,485,524 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GACTTGAGTCTATTTGGCTGCC -3'
(R):5'- ATTGCTGTCTCCATGTAGGTCC -3'

Sequencing Primer
(F):5'- GCTGCCCCTCTTTTCTGTACTATG -3'
(R):5'- GTCTCCATGTAGGTCCCCAAG -3'

Posted On

2021-04-30