Mutagenetix > Incidental Mutation

Incidental Mutation 'R0269:Cdkn2aip'

35147

Institutional Source

Beutler Lab

Gene Symbol

Cdkn2aip

Ensembl Gene

ENSMUSG00000038069

Gene Name

CDKN2A interacting protein

Synonyms

CARF, 4921511I16Rik

MMRRC Submission

038495-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R0269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48162379-48166966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48165012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 234 (S234P)

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

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

probably damaging
Transcript: ENSMUST00000212175
AA Change: S234P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212658

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.1%
20x: 93.6%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,838,201 (GRCm39)	V231I	possibly damaging	Het
Abca1	T	C	4: 53,044,228 (GRCm39)	D1798G	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Amhr2	T	C	15: 102,355,503 (GRCm39)	C189R	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
AW551984	T	C	9: 39,511,246 (GRCm39)	Y153C	probably damaging	Het
Bpifb1	A	G	2: 154,054,867 (GRCm39)	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Cd46	T	G	1: 194,746,996 (GRCm39)	I339L	probably benign	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Csf2rb2	G	T	15: 78,173,065 (GRCm39)	T265N	probably benign	Het
Cyp2c40	A	G	19: 39,762,340 (GRCm39)	F436L	probably damaging	Het
D130040H23Rik	T	C	8: 69,753,446 (GRCm39)	F24S	probably benign	Het
Defb12	G	T	8: 19,164,375 (GRCm39)	A34E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Gldc	T	A	19: 30,096,002 (GRCm39)	I670F	probably damaging	Het
Guf1	A	C	5: 69,716,942 (GRCm39)	Q168P	probably damaging	Het
Hcn2	A	G	10: 79,570,075 (GRCm39)		probably benign	Het
Hddc2	A	G	10: 31,203,942 (GRCm39)	M190V	probably benign	Het
Kcnq2	T	C	2: 180,738,767 (GRCm39)	E294G	probably benign	Het
Kdelr1	T	A	7: 45,523,463 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,090,511 (GRCm39)	H1158Q	probably damaging	Het
Laptm5	A	T	4: 130,658,127 (GRCm39)	N185Y	probably benign	Het
Mgat4a	A	G	1: 37,529,388 (GRCm39)	Y164H	possibly damaging	Het
Mlh3	C	A	12: 85,315,179 (GRCm39)	V336L	probably benign	Het
Myadm	A	G	7: 3,345,273 (GRCm39)	T12A	unknown	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or8g34	T	C	9: 39,373,090 (GRCm39)	M118T	probably damaging	Het
Or9s18	A	T	13: 65,300,692 (GRCm39)	Y218F	possibly damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,819,050 (GRCm39)	D172G	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Rgs7	A	G	1: 175,098,386 (GRCm39)	S58P	possibly damaging	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Sgsm1	T	C	5: 113,434,795 (GRCm39)		probably null	Het
Slc22a19	A	T	19: 7,686,986 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,936,332 (GRCm39)	Y428*	probably null	Het
Smarca4	T	G	9: 21,547,497 (GRCm39)	M260R	probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata17	T	C	1: 186,830,069 (GRCm39)	I322V	probably benign	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Sult1d1	A	T	5: 87,712,661 (GRCm39)	I61N	probably damaging	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Trmt11	T	A	10: 30,463,485 (GRCm39)	H210L	probably benign	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ush2a	T	A	1: 188,542,373 (GRCm39)	M3313K	probably benign	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	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
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
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'- GGCAACTCTACTTCTGCACTTCCAG -3'
(R):5'- GCAAGAAAACAGTTCGCCGTCC -3'

Sequencing Primer
(F):5'- TTCTGCACTTCCAGAGGAGC -3'
(R):5'- GGGGTCGTCCACCAAATC -3'

Posted On

2013-05-09