Incidental Mutation 'IGL02422:Cdkn2aip'
ID292719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkn2aip
Ensembl Gene ENSMUSG00000038069
Gene NameCDKN2A interacting protein
SynonymsCARF, 4921511I16Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.608) question?
Stock #IGL02422
Quality Score
Status
Chromosome8
Chromosomal Location47709344-47713932 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 47711499 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 393 (S393L)
Ref Sequence ENSEMBL: ENSMUSP00000148441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038738] [ENSMUST00000212175]
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 damaging
Transcript: ENSMUST00000212175
AA Change: S393L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212658
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Cdkn2aip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01467:Cdkn2aip APN 8 47711212 missense probably damaging 0.98
IGL03346:Cdkn2aip APN 8 47713618 missense probably benign
R0269:Cdkn2aip UTSW 8 47711977 missense probably damaging 0.99
R0557:Cdkn2aip UTSW 8 47712942 missense probably damaging 0.99
R0788:Cdkn2aip UTSW 8 47713763 missense possibly damaging 0.95
R1915:Cdkn2aip UTSW 8 47711926 missense probably benign 0.24
R1990:Cdkn2aip UTSW 8 47712176 missense probably benign 0.27
R2101:Cdkn2aip UTSW 8 47713001 missense probably damaging 0.98
R3081:Cdkn2aip UTSW 8 47711497 missense probably damaging 0.97
R4324:Cdkn2aip UTSW 8 47712173 missense probably benign 0.00
R4765:Cdkn2aip UTSW 8 47713547 missense probably damaging 1.00
R4983:Cdkn2aip UTSW 8 47712929 missense probably damaging 1.00
R4985:Cdkn2aip UTSW 8 47713445 intron probably benign
R6968:Cdkn2aip UTSW 8 47713887 start gained probably benign
Posted On2015-04-16