Incidental Mutation 'R4985:Cdkn2aip'
ID 385828
Institutional Source Beutler Lab
Gene Symbol Cdkn2aip
Ensembl Gene ENSMUSG00000038069
Gene Name CDKN2A interacting protein
Synonyms CARF, 4921511I16Rik
MMRRC Submission 042579-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # R4985 (G1)
Quality Score 121
Status Validated
Chromosome 8
Chromosomal Location 48162379-48166966 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 48166480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000212175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212658
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921508M14Rik A T 12: 34,924,457 (GRCm39) probably benign Het
Actn4 A G 7: 28,618,411 (GRCm39) L83P probably damaging Het
Adgb T C 10: 10,276,376 (GRCm39) R331G possibly damaging Het
Bmal1 T C 7: 112,884,280 (GRCm39) V106A probably damaging Het
Brf1 G T 12: 112,932,990 (GRCm39) probably null Het
Cd248 C T 19: 5,119,820 (GRCm39) T556I probably damaging Het
Ces1d T C 8: 93,901,772 (GRCm39) E399G possibly damaging Het
Col9a3 G A 2: 180,245,193 (GRCm39) R134H unknown Het
Ddb2 T C 2: 91,042,643 (GRCm39) probably null Het
Dlg1 A G 16: 31,606,953 (GRCm39) probably null Het
Dnah1 T G 14: 31,008,855 (GRCm39) E1973A probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
E130308A19Rik A G 4: 59,691,017 (GRCm39) T284A probably benign Het
Ecm1 C T 3: 95,643,415 (GRCm39) R295H possibly damaging Het
Efcab5 T A 11: 77,029,055 (GRCm39) H92L probably damaging Het
Egfr C A 11: 16,809,029 (GRCm39) Y74* probably null Het
Fbxo10 T C 4: 45,040,692 (GRCm39) I838V probably benign Het
Gfod2 C T 8: 106,454,643 (GRCm39) R79Q probably damaging Het
Gm11568 C A 11: 99,749,274 (GRCm39) P160T unknown Het
Gm29106 A T 1: 118,126,950 (GRCm39) D214V probably benign Het
Htr3b C A 9: 48,847,241 (GRCm39) V425F possibly damaging Het
Krt86 A T 15: 101,375,146 (GRCm39) E347V probably damaging Het
Lamc2 T C 1: 153,012,551 (GRCm39) I708V probably benign Het
Ldb2 T A 5: 44,637,645 (GRCm39) K221I probably damaging Het
Lmntd2 A C 7: 140,793,190 (GRCm39) S127R probably benign Het
Lrba A G 3: 86,234,743 (GRCm39) probably null Het
Mettl26 T A 17: 26,095,750 (GRCm39) *202R probably null Het
Mmp24 A G 2: 155,656,016 (GRCm39) K485E probably damaging Het
Nap1l1 T C 10: 111,325,944 (GRCm39) C88R probably benign Het
Or2d2 C A 7: 106,728,234 (GRCm39) R122L probably damaging Het
Or8b49 T A 9: 38,505,658 (GRCm39) I47N possibly damaging Het
Pafah1b1 T G 11: 74,576,814 (GRCm39) D159A probably damaging Het
Pcdhga7 T C 18: 37,848,698 (GRCm39) V235A probably benign Het
Pcf11 T C 7: 92,311,110 (GRCm39) T293A probably benign Het
Pidd1 A C 7: 141,018,504 (GRCm39) *916E probably null Het
Pip4k2c T C 10: 127,035,244 (GRCm39) I375V probably benign Het
Pou3f2 A T 4: 22,487,588 (GRCm39) S182T probably benign Het
Rin3 A T 12: 102,334,821 (GRCm39) D164V unknown Het
Rnf8 T C 17: 29,845,834 (GRCm39) S199P possibly damaging Het
Serpina6 A G 12: 103,620,195 (GRCm39) S185P probably benign Het
Slc47a2 C A 11: 61,193,059 (GRCm39) V565L probably benign Het
Slfn4 T A 11: 83,078,033 (GRCm39) F274I probably damaging Het
Tgif1 T C 17: 71,151,867 (GRCm39) Y248C probably benign Het
Tlx1 C A 19: 45,139,421 (GRCm39) Q23K possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Tspyl1 G A 10: 34,158,334 (GRCm39) D20N probably benign Het
Vmn1r159 A T 7: 22,542,959 (GRCm39) F24L probably damaging Het
Vmn1r204 T A 13: 22,741,230 (GRCm39) V287D probably damaging Het
Zdhhc18 A G 4: 133,340,228 (GRCm39) probably null Het
Zfp276 T G 8: 123,994,646 (GRCm39) V571G probably damaging Het
Other mutations in Cdkn2aip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGATACTGTCAGCTAAGCACC -3'
(R):5'- GGAGTTTCTGCTTCGCAATG -3'

Sequencing Primer
(F):5'- CAACAACTCCATCTGCCGGG -3'
(R):5'- TTCGCAATGCCGGGGAC -3'
Posted On 2016-05-10