Incidental Mutation 'R9158:Inca1'
ID 695528
Institutional Source Beutler Lab
Gene Symbol Inca1
Ensembl Gene ENSMUSG00000057054
Gene Name inhibitor of CDK, cyclin A1 interacting protein 1
Synonyms
MMRRC Submission 068942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R9158 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70579187-70590981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70581376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 16 (C16Y)
Ref Sequence ENSEMBL: ENSMUSP00000073311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036299] [ENSMUST00000073625] [ENSMUST00000100933] [ENSMUST00000108541] [ENSMUST00000108542] [ENSMUST00000108543] [ENSMUST00000108544] [ENSMUST00000108545] [ENSMUST00000119120] [ENSMUST00000120261] [ENSMUST00000126114] [ENSMUST00000145823]
AlphaFold Q6PKN7
Predicted Effect probably benign
Transcript: ENSMUST00000036299
SMART Domains Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 155 1.07e-83 SMART
low complexity region 232 243 N/A INTRINSIC
low complexity region 273 291 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
low complexity region 314 329 N/A INTRINSIC
low complexity region 370 380 N/A INTRINSIC
low complexity region 417 435 N/A INTRINSIC
low complexity region 461 485 N/A INTRINSIC
low complexity region 501 514 N/A INTRINSIC
Pfam:TIG 541 621 6.2e-13 PFAM
low complexity region 660 679 N/A INTRINSIC
Blast:ANK 717 750 7e-12 BLAST
SCOP:d1myo__ 718 816 2e-15 SMART
Blast:ANK 762 792 4e-11 BLAST
low complexity region 829 839 N/A INTRINSIC
low complexity region 844 853 N/A INTRINSIC
low complexity region 861 882 N/A INTRINSIC
IQ 1053 1075 2.59e2 SMART
IQ 1076 1092 2.38e2 SMART
IQ 1106 1128 5.42e0 SMART
low complexity region 1140 1157 N/A INTRINSIC
low complexity region 1180 1190 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073625
AA Change: C16Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073311
Gene: ENSMUSG00000057054
AA Change: C16Y

DomainStartEndE-ValueType
Pfam:INCA1 12 187 7.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100933
SMART Domains Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 36 152 8.08e-88 SMART
low complexity region 229 240 N/A INTRINSIC
low complexity region 270 288 N/A INTRINSIC
low complexity region 291 302 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
low complexity region 414 432 N/A INTRINSIC
low complexity region 458 482 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
Pfam:TIG 538 618 1.2e-8 PFAM
low complexity region 657 676 N/A INTRINSIC
Blast:ANK 714 747 8e-12 BLAST
SCOP:d1myo__ 715 813 2e-15 SMART
Blast:ANK 759 789 4e-11 BLAST
low complexity region 826 836 N/A INTRINSIC
low complexity region 841 850 N/A INTRINSIC
low complexity region 858 879 N/A INTRINSIC
IQ 1050 1072 2.59e2 SMART
IQ 1073 1095 1.18e1 SMART
IQ 1096 1118 5.42e0 SMART
low complexity region 1130 1147 N/A INTRINSIC
low complexity region 1170 1180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108541
AA Change: C16Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104181
Gene: ENSMUSG00000057054
AA Change: C16Y

DomainStartEndE-ValueType
Pfam:INCA1 12 187 7.7e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108542
AA Change: C16Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104182
Gene: ENSMUSG00000057054
AA Change: C16Y

DomainStartEndE-ValueType
Pfam:INCA1 12 187 7.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108543
SMART Domains Protein: ENSMUSP00000104183
Gene: ENSMUSG00000057054

DomainStartEndE-ValueType
Pfam:INCA1 1 152 1.5e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108544
SMART Domains Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 150 8.08e-88 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 268 286 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 456 480 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
Pfam:TIG 536 616 1.2e-8 PFAM
low complexity region 655 674 N/A INTRINSIC
Blast:ANK 712 745 7e-12 BLAST
SCOP:d1myo__ 713 811 2e-15 SMART
Blast:ANK 757 787 4e-11 BLAST
low complexity region 824 834 N/A INTRINSIC
low complexity region 839 848 N/A INTRINSIC
low complexity region 856 877 N/A INTRINSIC
IQ 1048 1070 2.59e2 SMART
IQ 1071 1087 2.38e2 SMART
IQ 1101 1123 5.42e0 SMART
low complexity region 1135 1152 N/A INTRINSIC
low complexity region 1175 1185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108545
SMART Domains Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 126 3.23e-55 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
low complexity region 388 406 N/A INTRINSIC
low complexity region 432 456 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
Pfam:TIG 512 592 1.1e-8 PFAM
low complexity region 631 650 N/A INTRINSIC
Blast:ANK 688 721 7e-12 BLAST
SCOP:d1myo__ 689 787 2e-15 SMART
Blast:ANK 733 763 5e-13 BLAST
low complexity region 800 810 N/A INTRINSIC
low complexity region 815 824 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
IQ 1024 1046 2.59e2 SMART
IQ 1047 1069 1.18e1 SMART
IQ 1070 1092 5.42e0 SMART
low complexity region 1104 1121 N/A INTRINSIC
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119120
SMART Domains Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 150 8.08e-88 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 268 286 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 456 480 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
Pfam:TIG 536 616 1.1e-8 PFAM
low complexity region 655 674 N/A INTRINSIC
Blast:ANK 712 745 7e-12 BLAST
SCOP:d1myo__ 713 811 2e-15 SMART
Blast:ANK 757 787 8e-13 BLAST
low complexity region 824 834 N/A INTRINSIC
low complexity region 839 848 N/A INTRINSIC
low complexity region 856 877 N/A INTRINSIC
IQ 1048 1070 2.59e2 SMART
IQ 1071 1093 1.18e1 SMART
IQ 1094 1116 5.42e0 SMART
low complexity region 1128 1145 N/A INTRINSIC
low complexity region 1168 1178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120261
SMART Domains Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 126 3.23e-55 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
low complexity region 388 406 N/A INTRINSIC
low complexity region 432 456 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
Pfam:TIG 512 592 1e-8 PFAM
low complexity region 631 650 N/A INTRINSIC
Blast:ANK 688 721 7e-12 BLAST
SCOP:d1myo__ 689 787 2e-15 SMART
Blast:ANK 733 763 7e-13 BLAST
low complexity region 800 810 N/A INTRINSIC
low complexity region 815 824 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
IQ 1024 1046 2.59e2 SMART
IQ 1047 1063 2.38e2 SMART
IQ 1077 1099 5.42e0 SMART
low complexity region 1111 1128 N/A INTRINSIC
low complexity region 1151 1161 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126114
AA Change: C16Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118761
Gene: ENSMUSG00000057054
AA Change: C16Y

DomainStartEndE-ValueType
Pfam:INCA1 12 187 8.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145823
SMART Domains Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 137 2.55e-44 SMART
low complexity region 146 165 N/A INTRINSIC
Meta Mutation Damage Score 0.4394 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (62/62)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased cell proliferation in mouse embryonic fibroblasts and older mice exhibit abnormal spleen architecture, particularly in the white pulp, and extramedullary hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,645 (GRCm39) C637Y probably damaging Het
Ahdc1 A G 4: 132,792,505 (GRCm39) T1249A possibly damaging Het
Alkbh3 A G 2: 93,835,082 (GRCm39) S88P probably damaging Het
Ankrd17 C A 5: 90,416,575 (GRCm39) A1086S probably damaging Het
Ankzf1 T A 1: 75,173,020 (GRCm39) V372E probably damaging Het
Apbb1ip T C 2: 22,764,951 (GRCm39) V544A probably benign Het
Atp13a2 T C 4: 140,724,112 (GRCm39) probably null Het
Cacna2d1 A G 5: 16,140,039 (GRCm39) T10A probably benign Het
Cadps T C 14: 12,546,356 (GRCm38) N500S probably benign Het
Casp16 A G 17: 23,769,948 (GRCm39) probably benign Het
Cdh22 T A 2: 165,012,627 (GRCm39) I153F probably damaging Het
Clip2 T C 5: 134,521,251 (GRCm39) E964G probably benign Het
Cracdl A T 1: 37,670,442 (GRCm39) M166K probably damaging Het
Cryga T C 1: 65,142,198 (GRCm39) D65G probably benign Het
Dap3 A G 3: 88,832,637 (GRCm39) Y357H probably damaging Het
Eef2 C T 10: 81,014,693 (GRCm39) probably benign Het
Gja4 A G 4: 127,206,466 (GRCm39) L99P probably damaging Het
Glb1l3 A T 9: 26,765,005 (GRCm39) Y135* probably null Het
Gm5114 T G 7: 39,060,486 (GRCm39) D121A probably damaging Het
Gm6525 A G 3: 84,082,255 (GRCm39) K59E probably benign Het
Herc1 C T 9: 66,376,400 (GRCm39) L3407F probably benign Het
Hmgcr G A 13: 96,792,170 (GRCm39) R589* probably null Het
Iglv3 A C 16: 19,060,012 (GRCm39) D105E probably damaging Het
Il1r1 G A 1: 40,332,391 (GRCm39) W60* probably null Het
Il31ra C T 13: 112,670,394 (GRCm39) W331* probably null Het
Inpp4a A G 1: 37,442,552 (GRCm39) T628A possibly damaging Het
Kdm2a C G 19: 4,374,715 (GRCm39) R805S possibly damaging Het
Kel T A 6: 41,664,905 (GRCm39) I620L probably benign Het
Kmt2d C T 15: 98,741,020 (GRCm39) G4638R unknown Het
Lilrb4b T A 10: 51,357,829 (GRCm39) N174K possibly damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltf T A 9: 110,868,003 (GRCm39) V615E probably damaging Het
Map7d1 G T 4: 126,130,478 (GRCm39) Q443K possibly damaging Het
Mapk9 A G 11: 49,745,095 (GRCm39) D3G probably benign Het
Nktr T G 9: 121,582,154 (GRCm39) S1424A unknown Het
Npas1 A G 7: 16,195,333 (GRCm39) S332P possibly damaging Het
Or13a25 T C 7: 140,247,547 (GRCm39) S109P possibly damaging Het
Or52n2c T C 7: 104,574,086 (GRCm39) Y295C probably damaging Het
Or5ak4 A G 2: 85,161,348 (GRCm39) I298T probably benign Het
Or6d12 T C 6: 116,492,791 (GRCm39) F18L possibly damaging Het
Or8b12b C A 9: 37,684,800 (GRCm39) P282T probably damaging Het
Pcdh8 A G 14: 80,005,182 (GRCm39) W948R probably damaging Het
Pde3a A G 6: 141,195,614 (GRCm39) E100G probably benign Het
Phrf1 T A 7: 140,836,466 (GRCm39) V246D unknown Het
Pitpnb A T 5: 111,530,876 (GRCm39) N223I probably damaging Het
Pkd1l3 A T 8: 110,394,207 (GRCm39) R2065* probably null Het
Prepl T C 17: 85,383,379 (GRCm39) D355G possibly damaging Het
Runx2 A G 17: 45,046,508 (GRCm39) V5A probably benign Het
Sema4g T A 19: 44,986,846 (GRCm39) V433D possibly damaging Het
Sema6a C T 18: 47,431,330 (GRCm39) V123I probably damaging Het
Senp6 A G 9: 79,994,732 (GRCm39) K24E probably benign Het
Slc22a8 T A 19: 8,583,427 (GRCm39) S211T probably damaging Het
Slc34a2 A G 5: 53,221,217 (GRCm39) D221G possibly damaging Het
Tmprss11g A T 5: 86,637,166 (GRCm39) L323Q probably damaging Het
Tpcn1 T C 5: 120,687,988 (GRCm39) probably benign Het
Trim65 G A 11: 116,018,050 (GRCm39) T311I probably benign Het
Tub T C 7: 108,625,962 (GRCm39) F284L possibly damaging Het
Ube2j1 G A 4: 33,036,711 (GRCm39) V12I probably benign Het
Vmn2r101 A T 17: 19,809,161 (GRCm39) N97Y probably benign Het
Vmn2r49 C A 7: 9,722,835 (GRCm39) W146C probably damaging Het
Zfp628 T C 7: 4,922,153 (GRCm39) L125P probably damaging Het
Other mutations in Inca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0505:Inca1 UTSW 11 70,581,025 (GRCm39) missense probably damaging 0.99
R4882:Inca1 UTSW 11 70,579,566 (GRCm39) missense probably benign 0.00
R5395:Inca1 UTSW 11 70,581,264 (GRCm39) critical splice donor site probably null
R5838:Inca1 UTSW 11 70,580,707 (GRCm39) missense probably damaging 1.00
R5878:Inca1 UTSW 11 70,586,808 (GRCm39) unclassified probably benign
R6532:Inca1 UTSW 11 70,586,733 (GRCm39) start codon destroyed probably null 0.77
R9174:Inca1 UTSW 11 70,580,732 (GRCm39) missense possibly damaging 0.86
R9688:Inca1 UTSW 11 70,579,810 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCAAATGAGGGCTCGCTG -3'
(R):5'- TGAATCCAGTGGTGAGTAGATTCTC -3'

Sequencing Primer
(F):5'- AATGAGGGCTCGCTGCTGTAAG -3'
(R):5'- AAGGCAGTGGTTCTCAATCTC -3'
Posted On 2022-01-20