Mutagenetix > Incidental Mutation

Incidental Mutation 'R7360:Cdkn1c'

571265

Institutional Source

Beutler Lab

Gene Symbol

Cdkn1c

Ensembl Gene

ENSMUSG00000037664

Gene Name

cyclin dependent kinase inhibitor 1C

Synonyms

Kip2, CDKI, p57Kip2

MMRRC Submission

045446-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R7360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143012076-143014735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143014431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 5 (D5G)

Ref Sequence

ENSEMBL: ENSMUSP00000128828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037287] [ENSMUST00000167912] [ENSMUST00000207910]

AlphaFold

P49919

Predicted Effect

probably benign
Transcript: ENSMUST00000037287

SMART Domains

Protein: ENSMUSP00000037302
Gene: ENSMUSG00000037664

Domain	Start	End	E-Value	Type
Pfam:CDI	20	72	5.7e-20	PFAM
low complexity region	95	107	N/A	INTRINSIC
low complexity region	120	147	N/A	INTRINSIC
low complexity region	219	250	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167912
AA Change: D5G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128828
Gene: ENSMUSG00000037664
AA Change: D5G

Domain	Start	End	E-Value	Type
Pfam:CDI	34	84	1.6e-16	PFAM
low complexity region	108	120	N/A	INTRINSIC
low complexity region	133	160	N/A	INTRINSIC
low complexity region	232	263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207910

Predicted Effect

probably benign
Transcript: ENSMUST00000208137

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Homozygous mutants or heterozygotes with a mutant maternal allele have developmental defects including cleft palate, gastrointestinal defects and short limbs. Most mutants die at birth; survivors are growth retarded and have immature reproductive systems. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	C	4: 106,606,548 (GRCm39)	P534A	possibly damaging	Het
Arhgef26	T	A	3: 62,355,626 (GRCm39)	Y733N	possibly damaging	Het
Aste1	G	T	9: 105,274,835 (GRCm39)	M358I	probably damaging	Het
B4galnt3	C	T	6: 120,209,940 (GRCm39)	W61*	probably null	Het
Brd9	C	T	13: 74,092,942 (GRCm39)	R311W	probably benign	Het
Cerk	A	G	15: 86,043,327 (GRCm39)	F158S	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cnot4	T	A	6: 35,041,941 (GRCm39)	E235V	probably damaging	Het
Crmp1	T	C	5: 37,433,624 (GRCm39)	V275A	possibly damaging	Het
Dcbld2	C	A	16: 58,285,683 (GRCm39)		probably null	Het
Dip2a	T	C	10: 76,114,394 (GRCm39)	R1029G	probably damaging	Het
Dnaaf1	A	G	8: 120,304,090 (GRCm39)	T43A	probably benign	Het
Eaf2	C	T	16: 36,648,514 (GRCm39)	S2N	probably benign	Het
Eif2b4	T	C	5: 31,348,719 (GRCm39)	D164G	probably benign	Het
Fpgs	T	C	2: 32,584,005 (GRCm39)	Y45C	possibly damaging	Het
Gm1527	C	T	3: 28,968,691 (GRCm39)	Q248*	probably null	Het
Gm29666	C	T	15: 84,798,469 (GRCm39)	A31T	unknown	Het
Gmip	C	A	8: 70,263,892 (GRCm39)	A112D	probably damaging	Het
Hibadh	C	T	6: 52,617,197 (GRCm39)	G13S	probably benign	Het
Hmcn1	A	T	1: 150,494,597 (GRCm39)	V4164D	probably damaging	Het
Kif15	A	T	9: 122,820,202 (GRCm39)	N580I	probably benign	Het
Krt25	G	A	11: 99,208,232 (GRCm39)	T332M	probably benign	Het
Krt88	G	T	15: 101,345,643 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,615,858 (GRCm39)		probably null	Het
Mapkapk5	A	G	5: 121,675,169 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,474,460 (GRCm39)	S1725L	probably benign	Het
Nckap1l	T	G	15: 103,384,526 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,893,277 (GRCm39)		probably null	Het
Obscn	A	C	11: 58,973,185 (GRCm39)	V1996G	probably damaging	Het
Or14j8	T	A	17: 38,263,900 (GRCm39)	N5I	probably damaging	Het
Or4a66	A	T	2: 88,531,331 (GRCm39)	V114E	probably damaging	Het
Parp8	T	C	13: 117,032,307 (GRCm39)	T289A	probably benign	Het
Pcsk5	T	C	19: 17,492,577 (GRCm39)	K932R	probably benign	Het
Pde4dip	T	C	3: 97,625,632 (GRCm39)	D1322G	probably benign	Het
Peli3	A	T	19: 4,985,103 (GRCm39)	M136K	possibly damaging	Het
Pgm5	A	G	19: 24,812,181 (GRCm39)	I117T	probably damaging	Het
Ppm1g	T	C	5: 31,360,621 (GRCm39)	D478G	probably damaging	Het
Ppp2r5c	A	G	12: 110,541,272 (GRCm39)	T474A	probably benign	Het
Ptger3	T	C	3: 157,272,764 (GRCm39)	V37A	probably benign	Het
Ptprz1	T	C	6: 23,000,906 (GRCm39)	S999P	probably damaging	Het
Pygl	C	T	12: 70,274,306 (GRCm39)	G18S	probably benign	Het
Rest	T	C	5: 77,428,976 (GRCm39)	V465A	probably benign	Het
Sart1	T	C	19: 5,433,231 (GRCm39)	D422G	probably damaging	Het
Sgk1	A	G	10: 21,869,972 (GRCm39)	M4V	probably benign	Het
Slc33a1	A	G	3: 63,855,075 (GRCm39)	V395A	possibly damaging	Het
Slc38a11	A	T	2: 65,184,139 (GRCm39)	S171T	possibly damaging	Het
Slc4a2	T	A	5: 24,634,713 (GRCm39)	S76T	probably benign	Het
Spata31h1	T	C	10: 82,132,341 (GRCm39)	D223G	unknown	Het
Ssc4d	T	A	5: 135,994,965 (GRCm39)	S184C	probably damaging	Het
Tspoap1	A	G	11: 87,669,347 (GRCm39)	Y1540C	probably benign	Het
Ube3a	T	A	7: 58,926,383 (GRCm39)	L408Q	probably damaging	Het
Usp43	C	A	11: 67,767,155 (GRCm39)		probably null	Het
Zan	A	C	5: 137,385,232 (GRCm39)	V5067G	unknown	Het
Zfp180	C	A	7: 23,804,915 (GRCm39)	L445I	probably damaging	Het

Other mutations in Cdkn1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
bubbly	UTSW	7	143,014,326 (GRCm39)	missense	possibly damaging	0.95
exuberant	UTSW	7	143,013,531 (GRCm39)	critical splice donor site	probably benign
R1768:Cdkn1c	UTSW	7	143,012,858 (GRCm39)	missense	probably benign	0.27
R3617:Cdkn1c	UTSW	7	143,013,531 (GRCm39)	critical splice donor site	probably benign
R7111:Cdkn1c	UTSW	7	143,014,326 (GRCm39)	missense	possibly damaging	0.95
R7665:Cdkn1c	UTSW	7	143,014,371 (GRCm39)	missense	possibly damaging	0.47
R8463:Cdkn1c	UTSW	7	143,014,324 (GRCm39)	missense	possibly damaging	0.94
R9051:Cdkn1c	UTSW	7	143,013,964 (GRCm39)	missense	possibly damaging	0.73
R9678:Cdkn1c	UTSW	7	143,014,383 (GRCm39)	missense	probably benign	0.00
Z1177:Cdkn1c	UTSW	7	143,014,053 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGAAGTCCCAGCGGTTC -3'
(R):5'- TATGCTAATCGTGAGGAGGCCC -3'

Sequencing Primer
(F):5'- TCTGGTCCTCGGCGTTCAG -3'
(R):5'- CTGGACAGGACAAGCGATCC -3'

Posted On

2019-09-13