Mutagenetix > Incidental Mutation

Incidental Mutation 'R9034:Cdkn2aip'

687226

Institutional Source

Beutler Lab

Gene Symbol

Cdkn2aip

Ensembl Gene

ENSMUSG00000038069

Gene Name

CDKN2A interacting protein

Synonyms

CARF, 4921511I16Rik

MMRRC Submission

068863-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R9034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48162379-48166966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48164243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 490 (C490F)

Ref Sequence

ENSEMBL: ENSMUSP00000148441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038738] [ENSMUST00000212175]

AlphaFold

Q8BI72

Predicted Effect

probably benign
Transcript: ENSMUST00000038738

SMART Domains

Protein: ENSMUSP00000043713
Gene: ENSMUSG00000038069

Domain	Start	End	E-Value	Type
Pfam:XTBD	19	117	1e-34	PFAM
low complexity region	168	199	N/A	INTRINSIC
low complexity region	204	216	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
low complexity region	270	280	N/A	INTRINSIC
low complexity region	303	356	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
Blast:DSRM	449	514	4e-6	BLAST
low complexity region	515	531	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000212175
AA Change: C490F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.7136

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Acvr2a	T	C	2: 48,763,381 (GRCm39)	Y142H	probably damaging	Het
Agfg1	C	T	1: 82,853,913 (GRCm39)	Q188*	probably null	Het
Akap11	C	A	14: 78,748,299 (GRCm39)	V1363F		Het
Aldh3a1	A	G	11: 61,104,475 (GRCm39)	T121A	probably benign	Het
Arid1b	T	A	17: 5,387,180 (GRCm39)	D1491E	probably benign	Het
Baz2a	A	G	10: 127,952,268 (GRCm39)	T617A	probably damaging	Het
Cacna1c	T	C	6: 118,728,359 (GRCm39)	M362V		Het
Cant1	T	A	11: 118,302,128 (GRCm39)	H63L	probably benign	Het
Cenpn	T	A	8: 117,661,478 (GRCm39)	D192E	probably benign	Het
Clint1	C	A	11: 45,799,782 (GRCm39)	L514M	probably benign	Het
Clint1	T	A	11: 45,799,783 (GRCm39)	L514Q	possibly damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cspg5	T	C	9: 110,080,089 (GRCm39)	F419S	probably damaging	Het
Ehmt2	C	A	17: 35,122,417 (GRCm39)	A328E	probably benign	Het
Ercc6l2	T	C	13: 63,992,447 (GRCm39)	S299P	probably damaging	Het
F13b	T	C	1: 139,435,961 (GRCm39)	C256R	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,141 (GRCm39)	T75A	probably damaging	Het
Fam227a	T	C	15: 79,532,952 (GRCm39)	M69V	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Grin2c	C	T	11: 115,142,065 (GRCm39)	E785K	probably damaging	Het
H2-M2	A	T	17: 37,792,176 (GRCm39)	S325T	probably benign	Het
Hmgcr	A	G	13: 96,795,885 (GRCm39)	S261P	probably damaging	Het
Impg1	T	A	9: 80,347,351 (GRCm39)		probably benign	Het
Irag2	T	C	6: 145,083,273 (GRCm39)	V4A	probably benign	Het
Krit1	A	G	5: 3,862,996 (GRCm39)		probably benign	Het
Krtap26-1	A	T	16: 88,444,161 (GRCm39)	N153K	probably benign	Het
Mfsd14b	G	T	13: 65,223,500 (GRCm39)	A178E	probably damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Myh6	A	T	14: 55,185,596 (GRCm39)	I1531N	possibly damaging	Het
Myo7a	G	T	7: 97,728,465 (GRCm39)	A836D	probably benign	Het
Ncam1	A	T	9: 49,481,198 (GRCm39)	S19T	probably benign	Het
Nes	T	A	3: 87,885,735 (GRCm39)	D1331E	probably damaging	Het
Nsd2	G	A	5: 34,037,478 (GRCm39)	R700Q	possibly damaging	Het
Nxt1	A	T	2: 148,517,331 (GRCm39)	Y24F	possibly damaging	Het
Or14c39	G	A	7: 86,343,969 (GRCm39)	V102I	probably benign	Het
Or52n4	T	A	7: 104,293,835 (GRCm39)	H248L	probably damaging	Het
Or5g24-ps1	A	T	2: 85,464,144 (GRCm39)	T124S	probably benign	Het
Or6f2	G	A	7: 139,756,884 (GRCm39)	V284I	probably benign	Het
Or8b40	G	A	9: 38,027,550 (GRCm39)	V158M	possibly damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or9g20	G	T	2: 85,630,302 (GRCm39)	A104E	possibly damaging	Het
Pex5l	T	A	3: 33,006,683 (GRCm39)	Q562L	probably damaging	Het
Plxna2	A	G	1: 194,476,197 (GRCm39)	Y1139C	probably damaging	Het
Prelp	T	C	1: 133,842,329 (GRCm39)	N272S	probably damaging	Het
Rtkn2	A	G	10: 67,841,416 (GRCm39)	K188R	probably damaging	Het
Sbno2	G	A	10: 79,898,591 (GRCm39)	R624W	probably damaging	Het
Scn8a	T	A	15: 100,927,642 (GRCm39)	C1374S	probably damaging	Het
Serpina1e	T	A	12: 103,917,361 (GRCm39)	T103S	probably benign	Het
Sh3tc2	A	G	18: 62,107,571 (GRCm39)	E194G	probably benign	Het
Slc36a3	A	T	11: 55,016,515 (GRCm39)	I360N	probably damaging	Het
Sphk1	T	C	11: 116,426,449 (GRCm39)	V135A	probably damaging	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tnip2	C	T	5: 34,671,177 (GRCm39)	C22Y	probably damaging	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Trp73	T	C	4: 154,152,088 (GRCm39)	T187A	probably benign	Het
Tspan33	C	T	6: 29,717,611 (GRCm39)	Q276*	probably null	Het
Ttn	C	T	2: 76,542,871 (GRCm39)	G33372R	probably damaging	Het
Vmn2r31	T	A	7: 7,397,680 (GRCm39)	T193S	probably benign	Het
Vps54	T	C	11: 21,213,273 (GRCm39)	F19L	probably benign	Het
Vwa8	A	G	14: 79,296,179 (GRCm39)	T856A	probably damaging	Het
Zscan4b	A	T	7: 10,634,840 (GRCm39)	Y468N	probably benign	Het

Other mutations in Cdkn2aip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Cdkn2aip	APN	8	48,164,247 (GRCm39)	missense	probably damaging	0.98
IGL02422:Cdkn2aip	APN	8	48,164,534 (GRCm39)	missense	probably damaging	0.98
IGL03346:Cdkn2aip	APN	8	48,166,653 (GRCm39)	missense	probably benign
R0269:Cdkn2aip	UTSW	8	48,165,012 (GRCm39)	missense	probably damaging	0.99
R0557:Cdkn2aip	UTSW	8	48,165,977 (GRCm39)	missense	probably damaging	0.99
R0788:Cdkn2aip	UTSW	8	48,166,798 (GRCm39)	missense	possibly damaging	0.95
R1915:Cdkn2aip	UTSW	8	48,164,961 (GRCm39)	missense	probably benign	0.24
R1990:Cdkn2aip	UTSW	8	48,165,211 (GRCm39)	missense	probably benign	0.27
R2101:Cdkn2aip	UTSW	8	48,166,036 (GRCm39)	missense	probably damaging	0.98
R3081:Cdkn2aip	UTSW	8	48,164,532 (GRCm39)	missense	probably damaging	0.97
R4324:Cdkn2aip	UTSW	8	48,165,208 (GRCm39)	missense	probably benign	0.00
R4765:Cdkn2aip	UTSW	8	48,166,582 (GRCm39)	missense	probably damaging	1.00
R4983:Cdkn2aip	UTSW	8	48,165,964 (GRCm39)	missense	probably damaging	1.00
R4985:Cdkn2aip	UTSW	8	48,166,480 (GRCm39)	intron	probably benign
R6968:Cdkn2aip	UTSW	8	48,166,922 (GRCm39)	start gained	probably benign
R7402:Cdkn2aip	UTSW	8	48,164,408 (GRCm39)	missense	possibly damaging	0.94
R9729:Cdkn2aip	UTSW	8	48,166,654 (GRCm39)	missense	probably benign	0.23
R9783:Cdkn2aip	UTSW	8	48,164,090 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GTGCCTACTTGGAGAAGTTACAG -3'
(R):5'- ACTGTATAAGACGGTGGCGTG -3'

Sequencing Primer
(F):5'- TGGAGAAGTTACAGTAATTCTTGAGG -3'
(R):5'- TGGCGTGGAAGTTAGTAGCAG -3'

Posted On

2021-11-19