Mutagenetix > Incidental Mutation

Incidental Mutation 'R2101:Cdkn2aip'

230501

Institutional Source

Beutler Lab

Gene Symbol

Cdkn2aip

Ensembl Gene

ENSMUSG00000038069

Gene Name

CDKN2A interacting protein

Synonyms

CARF, 4921511I16Rik

MMRRC Submission

040105-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R2101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48162379-48166966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48166036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 90 (M90K)

Ref Sequence

ENSEMBL: ENSMUSP00000043713 (fasta)

Gene Model

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

AlphaFold

Q8BI72

Predicted Effect

probably damaging
Transcript: ENSMUST00000038738
AA Change: M90K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043713
Gene: ENSMUSG00000038069
AA Change: M90K

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

noncoding transcript
Transcript: ENSMUST00000180928

SMART Domains

Protein: ENSMUSP00000137808
Gene: ENSMUSG00000097706

Domain	Start	End	E-Value	Type
low complexity region	112	120	N/A	INTRINSIC
low complexity region	196	207	N/A	INTRINSIC
low complexity region	234	239	N/A	INTRINSIC
low complexity region	259	292	N/A	INTRINSIC
low complexity region	302	312	N/A	INTRINSIC
low complexity region	316	331	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212175
AA Change: M90K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212658

Meta Mutation Damage Score

0.7581

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	A	2: 103,397,207 (GRCm39)	A46T	probably benign	Het
Agap3	T	A	5: 24,692,797 (GRCm39)	L47Q	probably damaging	Het
Apaf1	T	G	10: 90,895,942 (GRCm39)	I377L	probably benign	Het
Astn2	G	A	4: 65,499,923 (GRCm39)	R937*	probably null	Het
Cacnb1	A	C	11: 97,896,554 (GRCm39)	V369G	probably damaging	Het
Cdc42bpa	G	T	1: 179,974,533 (GRCm39)	V1464L	probably benign	Het
Chd3	A	T	11: 69,239,877 (GRCm39)	D1650E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a2	T	C	3: 144,783,699 (GRCm39)	T639A	probably damaging	Het
Cluh	G	T	11: 74,551,328 (GRCm39)		probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Col11a2	A	T	17: 34,271,143 (GRCm39)	D528V	probably damaging	Het
Cyfip2	A	G	11: 46,133,270 (GRCm39)	L810P	probably damaging	Het
D430041D05Rik	A	G	2: 103,979,175 (GRCm39)	V2084A	probably damaging	Het
Dcc	G	A	18: 71,943,941 (GRCm39)	H237Y	possibly damaging	Het
Ddx60	T	A	8: 62,393,679 (GRCm39)	F38L	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dock5	G	T	14: 68,031,459 (GRCm39)	F990L	probably benign	Het
Dpy19l1	A	T	9: 24,393,331 (GRCm39)	V146E	probably damaging	Het
Dscam	T	C	16: 96,411,549 (GRCm39)	T1776A	probably benign	Het
Enpep	C	T	3: 129,092,587 (GRCm39)	S532N	probably benign	Het
Gdf6	A	G	4: 9,860,025 (GRCm39)	D369G	probably damaging	Het
Gtf2b	T	C	3: 142,477,144 (GRCm39)		probably benign	Het
Hmbox1	A	G	14: 65,066,028 (GRCm39)		probably benign	Het
Hps3	C	A	3: 20,066,947 (GRCm39)	V540F	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,553 (GRCm39)	I249F	possibly damaging	Het
Hunk	T	A	16: 90,229,388 (GRCm39)		probably null	Het
Kidins220	T	A	12: 25,107,422 (GRCm39)	L1625Q	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Myo10	T	A	15: 25,722,345 (GRCm39)	L186Q	probably benign	Het
N4bp2	T	A	5: 65,948,224 (GRCm39)	W285R	probably damaging	Het
Nat8l	T	C	5: 34,155,716 (GRCm39)	L124P	probably damaging	Het
Nemp2	T	C	1: 52,680,225 (GRCm39)		probably null	Het
Nkain2	G	A	10: 32,205,813 (GRCm39)	T74I	possibly damaging	Het
Nol4	A	G	18: 22,956,466 (GRCm39)	S239P	probably damaging	Het
Or4c118	T	A	2: 88,975,301 (GRCm39)	E22V	probably benign	Het
Pcbp3	T	C	10: 76,625,589 (GRCm39)	I152V	possibly damaging	Het
Pcp4l1	G	T	1: 171,003,174 (GRCm39)	P10Q	probably damaging	Het
Pla1a	T	C	16: 38,235,730 (GRCm39)	N135D	probably damaging	Het
Plb1	T	A	5: 32,507,004 (GRCm39)	M1193K	probably damaging	Het
Prc1	T	C	7: 79,962,032 (GRCm39)	V73A	probably benign	Het
Prkd2	T	A	7: 16,603,490 (GRCm39)	W807R	probably damaging	Het
Prp2rt	G	T	13: 97,235,730 (GRCm39)	R6S	probably damaging	Het
Ptprb	C	T	10: 116,150,943 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,319,559 (GRCm39)	I993V	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rev3l	T	C	10: 39,704,092 (GRCm39)	V2046A	probably benign	Het
Rnpep	G	T	1: 135,199,355 (GRCm39)	N334K	probably damaging	Het
Sarm1	G	A	11: 78,366,115 (GRCm39)	P695S	probably damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Slc38a10	A	T	11: 120,023,567 (GRCm39)	V283E	probably damaging	Het
Slco6c1	A	T	1: 97,000,595 (GRCm39)	L552*	probably null	Het
Tas2r136	T	C	6: 132,754,495 (GRCm39)	M211V	probably benign	Het
Tax1bp3	G	A	11: 73,071,947 (GRCm39)	D65N	probably damaging	Het
Tdrd5	A	G	1: 156,129,209 (GRCm39)	F167S	probably damaging	Het
Tfeb	G	A	17: 48,100,590 (GRCm39)	V269M	probably damaging	Het
Tspan12	A	T	6: 21,799,887 (GRCm39)	F153L	probably benign	Het
Txnrd1	T	G	10: 82,717,573 (GRCm39)	L186V	probably damaging	Het
Upk1b	A	T	16: 38,600,499 (GRCm39)	C160*	probably null	Het
Uty	T	C	Y: 1,176,541 (GRCm39)	Q172R	probably damaging	Het
Vmn1r23	T	C	6: 57,903,437 (GRCm39)	K114E	possibly damaging	Het
Vmn2r99	T	G	17: 19,598,253 (GRCm39)	N92K	probably damaging	Het
Vstm2a	T	A	11: 16,213,191 (GRCm39)	M192K	probably benign	Het
Zc3h12c	A	G	9: 52,027,721 (GRCm39)	V547A	probably benign	Het
Zfp944	T	A	17: 22,558,809 (GRCm39)	N146I	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
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
R9034:Cdkn2aip	UTSW	8	48,164,243 (GRCm39)	missense	probably damaging	0.99
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'- ACAGCATCAGACATTGGACTTG -3'
(R):5'- CGCGGTTCGTACACTTTGATC -3'

Sequencing Primer
(F):5'- GCATCAGACATTGGACTTGAAAATC -3'
(R):5'- CTGCCAGTACTTTCGGAAA -3'

Posted On

2014-09-18