Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Cdkn2aip'

45637

Institutional Source

Beutler Lab

Gene Symbol

Cdkn2aip

Ensembl Gene

ENSMUSG00000038069

Gene Name

CDKN2A interacting protein

Synonyms

CARF, 4921511I16Rik

MMRRC Submission

038749-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48162379-48166966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48165977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 110 (T110A)

Ref Sequence

ENSEMBL: ENSMUSP00000148441 (fasta)

Gene Model

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

AlphaFold

Q8BI72

Predicted Effect

probably damaging
Transcript: ENSMUST00000038738
AA Change: T110A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043713
Gene: ENSMUSG00000038069
AA Change: T110A

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: T110A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212658

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mak	A	G	13: 41,193,135 (GRCm39)	Y446H	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,294,163 (GRCm39)	L462P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata18	A	T	5: 73,809,013 (GRCm39)	N29Y	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Spsb2	A	C	6: 124,787,355 (GRCm39)	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,410,779 (GRCm39)	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	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
R0269:Cdkn2aip	UTSW	8	48,165,012 (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'- TCCCATGATCTCGCTCAACTGAAGAA -3'
(R):5'- CATTCCTCACGCTGCCAGTACTT -3'

Sequencing Primer
(F):5'- acaaaacaaaacaagacaaacaaaag -3'
(R):5'- AACCACTTCTTGAGAGCGAC -3'

Posted On

2013-06-11