Mutagenetix > Incidental Mutation

Incidental Mutation 'R7162:Kcp'

574635

Institutional Source

Beutler Lab

Gene Symbol

Kcp

Ensembl Gene

ENSMUSG00000059022

Gene Name

kielin/chordin-like protein

Synonyms

Crim2, LOC333088, KCP

MMRRC Submission

045261-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7162 (G1)

Quality Score

119.008

Status

Validated

Chromosome

Chromosomal Location

29473161-29507951 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 29497199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099135 (fasta)

Gene Model

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

AlphaFold

Q3U492

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000101614

SMART Domains

Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022

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: ENSMUST00000160181

SMART Domains

Protein: ENSMUSP00000125699
Gene: ENSMUSG00000059022

Domain	Start	End	E-Value	Type
VWC	18	74	1.24e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (85/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	T	1: 87,055,471 (GRCm39)	T506I	unknown	Het
Ank1	T	C	8: 23,622,370 (GRCm39)	W1640R	possibly damaging	Het
Atp2a2	A	G	5: 122,627,387 (GRCm39)	M126T	probably benign	Het
Bptf	A	T	11: 106,934,457 (GRCm39)		probably null	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
Cables1	T	C	18: 12,059,423 (GRCm39)		probably null	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Cacna1b	A	C	2: 24,590,034 (GRCm39)	I558S	probably benign	Het
Ccdc166	A	G	15: 75,853,044 (GRCm39)	S308P	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfhr2	A	G	1: 139,741,264 (GRCm39)	V237A	probably benign	Het
Clybl	C	A	14: 122,608,732 (GRCm39)	S108*	probably null	Het
Cubn	A	G	2: 13,347,309 (GRCm39)	Y2070H	probably damaging	Het
Cyp8b1	A	G	9: 121,744,777 (GRCm39)	F185S	probably damaging	Het
Dennd2c	T	A	3: 103,063,423 (GRCm39)	V620D	probably damaging	Het
Dis3l2	T	C	1: 86,971,752 (GRCm39)	F597L	possibly damaging	Het
Eif3f	G	A	7: 108,539,938 (GRCm39)	R282H	probably benign	Het
Ell	C	A	8: 71,031,559 (GRCm39)	R86S	possibly damaging	Het
Eppk1	A	G	15: 75,990,809 (GRCm39)	V2024A	possibly damaging	Het
Exoc6	T	C	19: 37,565,566 (GRCm39)	I214T	probably damaging	Het
Faim2	A	G	15: 99,419,048 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,168,306 (GRCm39)	S516P	probably benign	Het
Gm18596	A	T	10: 77,578,034 (GRCm39)	S147T	unknown	Het
Gm19965	A	G	1: 116,750,095 (GRCm39)	Y592C	unknown	Het
Gng12	T	C	6: 66,994,285 (GRCm39)	S36P	unknown	Het
Gramd2b	G	A	18: 56,618,529 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,624,744 (GRCm39)	T1054S	probably benign	Het
Ifngr1	A	G	10: 19,485,101 (GRCm39)	T367A	probably benign	Het
Il21r	G	T	7: 125,231,483 (GRCm39)	V304L	probably benign	Het
Ino80d	G	A	1: 63,104,894 (GRCm39)	T394M	probably damaging	Het
Itfg2	C	T	6: 128,387,546 (GRCm39)	V380M	probably damaging	Het
Kcna5	C	T	6: 126,510,806 (GRCm39)	V441I	possibly damaging	Het
Kdf1	C	T	4: 133,257,229 (GRCm39)	T375I	unknown	Het
Klk1b1	A	T	7: 43,618,671 (GRCm39)	D16V	probably damaging	Het
Krtap5-4	A	C	7: 141,857,335 (GRCm39)	T2P	unknown	Het
Lamtor1	A	G	7: 101,555,243 (GRCm39)	D13G	probably benign	Het
Lrp10	T	C	14: 54,703,163 (GRCm39)	V72A	possibly damaging	Het
Lrrc1	C	A	9: 77,339,472 (GRCm39)	A503S	probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Myo5b	C	G	18: 74,828,498 (GRCm39)	L717V	probably benign	Het
Myoz3	T	A	18: 60,709,485 (GRCm39)	R225S	probably damaging	Het
Myrf	A	G	19: 10,196,010 (GRCm39)	F335L	possibly damaging	Het
Nfib	A	C	4: 82,268,677 (GRCm39)	S292A	probably damaging	Het
Notch3	G	T	17: 32,365,423 (GRCm39)	H1096Q	probably damaging	Het
Nt5c1a	A	G	4: 123,107,898 (GRCm39)	R194G	probably benign	Het
Or10d3	A	G	9: 39,461,525 (GRCm39)	I214T	probably damaging	Het
Or5a1	A	G	19: 12,097,501 (GRCm39)	F192L	possibly damaging	Het
Parp4	A	G	14: 56,886,333 (GRCm39)	E1804G	unknown	Het
Pcdhac2	A	T	18: 37,278,840 (GRCm39)	I607L	probably benign	Het
Pcdhb5	A	G	18: 37,454,739 (GRCm39)	D373G	probably benign	Het
Pcf11	A	T	7: 92,313,221 (GRCm39)	V154E	probably damaging	Het
Pdia3	T	G	2: 121,260,002 (GRCm39)	D180E	probably benign	Het
Piezo2	C	A	18: 63,257,780 (GRCm39)	V313F	possibly damaging	Het
Pik3ap1	C	A	19: 41,309,965 (GRCm39)	A452S	probably benign	Het
Plb1	A	G	5: 32,507,007 (GRCm39)	K1194R	probably benign	Het
Pld3	A	C	7: 27,231,899 (GRCm39)	W431G	probably damaging	Het
Plekha3	T	C	2: 76,523,110 (GRCm39)		probably null	Het
Ppm1f	G	T	16: 16,732,057 (GRCm39)	R169L	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,673 (GRCm38)	V60A		Het
Prop1	T	A	11: 50,842,881 (GRCm39)	D102V	probably damaging	Het
Rbm27	G	A	18: 42,447,092 (GRCm39)	G446R	unknown	Het
Rc3h2	C	A	2: 37,299,617 (GRCm39)	V138L	possibly damaging	Het
Rorc	G	A	3: 94,284,915 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sart3	A	G	5: 113,900,896 (GRCm39)	Y181H	probably damaging	Het
Sbpl	A	T	17: 24,172,439 (GRCm39)	M160K	possibly damaging	Het
Sh3gl3	A	G	7: 81,933,350 (GRCm39)	S238G	probably benign	Het
Slc22a30	A	G	19: 8,314,081 (GRCm39)		probably null	Het
Slc3a1	A	T	17: 85,371,442 (GRCm39)	R665*	probably null	Het
Stk32a	C	A	18: 43,430,649 (GRCm39)	Y186*	probably null	Het
Stxbp6	T	C	12: 44,949,663 (GRCm39)	N89D	probably benign	Het
Svep1	A	G	4: 58,070,262 (GRCm39)	F2508S	possibly damaging	Het
Tas1r1	A	G	4: 152,116,695 (GRCm39)	V313A	possibly damaging	Het
Tmem81	T	C	1: 132,435,355 (GRCm39)	Y54H	probably damaging	Het
Tmtc1	T	C	6: 148,172,985 (GRCm39)	N582S	probably damaging	Het
Top2b	T	C	14: 16,416,653 (GRCm38)	S1138P	probably benign	Het
Trim24	T	A	6: 37,942,456 (GRCm39)	N989K	possibly damaging	Het
Trim72	T	A	7: 127,606,821 (GRCm39)	M145K	probably benign	Het
Ttll9	T	A	2: 152,831,523 (GRCm39)	S154T	probably damaging	Het
Tusc3	T	C	8: 39,593,741 (GRCm39)	V286A	probably benign	Het
Vat1l	C	A	8: 114,963,518 (GRCm39)	H185N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,128 (GRCm39)	D187E	probably damaging	Het
Vmn2r87	T	C	10: 130,313,416 (GRCm39)	N450S	probably benign	Het
Wdr7	T	A	18: 63,857,210 (GRCm39)	D95E	possibly damaging	Het
Zfp937	C	T	2: 150,081,439 (GRCm39)	H490Y	probably benign	Het
Zfp974	A	T	7: 27,610,944 (GRCm39)	H260Q	possibly damaging	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
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
R8702:Kcp	UTSW	6	29,482,750 (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'- TGTTAGGTGTCACTTGCAGC -3'
(R):5'- CTCTGGAACTCACAAGGTCATGG -3'

Sequencing Primer
(F):5'- GCTTCTCTGAGGCTCCCAGAATG -3'
(R):5'- CTCACAAGGTCATGGACGAG -3'

Posted On

2019-09-25