Incidental Mutation 'R9505:Inka1'
ID 717784
Institutional Source Beutler Lab
Gene Symbol Inka1
Ensembl Gene ENSMUSG00000042106
Gene Name inka box actin regulator 1
Synonyms Fam212a, 6230427J02Rik, Inka1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R9505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107861422-107863078 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 107862092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 75 (K75*)
Ref Sequence ENSEMBL: ENSMUSP00000040433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035216] [ENSMUST00000048568] [ENSMUST00000175914] [ENSMUST00000177368] [ENSMUST00000177392]
AlphaFold Q9CX62
Predicted Effect probably benign
Transcript: ENSMUST00000035216
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 6 401 1.2e-33 PFAM
Pfam:E1_FCCH 178 249 1.1e-26 PFAM
Pfam:E1_4HB 250 318 2.5e-22 PFAM
internal_repeat_1 402 510 8.05e-5 PROSPERO
Pfam:UBA_e1_thiolCys 592 808 1.3e-50 PFAM
UBA_e1_C 846 973 4.63e-65 SMART
Predicted Effect probably null
Transcript: ENSMUST00000048568
AA Change: K75*
SMART Domains Protein: ENSMUSP00000040433
Gene: ENSMUSG00000042106
AA Change: K75*

DomainStartEndE-ValueType
low complexity region 52 73 N/A INTRINSIC
Pfam:FAM212 146 201 1.7e-30 PFAM
low complexity region 228 237 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000175914
AA Change: K77*
SMART Domains Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106
AA Change: K77*

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177039
Predicted Effect probably benign
Transcript: ENSMUST00000177368
SMART Domains Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

DomainStartEndE-ValueType
Blast:UBA_e1_C 1 39 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: A small percentage of homozygous null mice display exencephaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,185,782 (GRCm39) probably benign Het
Adamts17 A C 7: 66,774,683 (GRCm39) N961T probably benign Het
Adamts3 G A 5: 89,855,751 (GRCm39) T373I probably damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bicd1 A C 6: 149,385,522 (GRCm39) E85A probably benign Het
Brca1 G T 11: 101,403,592 (GRCm39) H1437N probably benign Het
Camk2n1 T C 4: 138,182,567 (GRCm39) I24T possibly damaging Het
Ces2f T A 8: 105,676,669 (GRCm39) M121K probably benign Het
Cfap299 A G 5: 98,477,213 (GRCm39) M1V probably null Het
CN725425 T A 15: 91,124,867 (GRCm39) Y136N possibly damaging Het
Ctla2a T A 13: 61,084,342 (GRCm39) M2L unknown Het
Cyp3a57 A T 5: 145,286,139 (GRCm39) Y25F probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Dnah3 A T 7: 119,644,912 (GRCm39) I1123N probably damaging Het
Fcgbpl1 A T 7: 27,841,909 (GRCm39) K615* probably null Het
Fkbp10 G T 11: 100,306,826 (GRCm39) E73* probably null Het
Flnb C A 14: 7,904,665 (GRCm38) H1023N probably benign Het
Gapvd1 T A 2: 34,613,026 (GRCm39) Q312H Het
Garre1 A T 7: 33,984,371 (GRCm39) L84Q probably damaging Het
Htr1d A T 4: 136,170,889 (GRCm39) I373F probably benign Het
Inhba G A 13: 16,201,356 (GRCm39) R306H probably damaging Het
Iqcg A T 16: 32,861,247 (GRCm39) D156E probably benign Het
Ireb2 C A 9: 54,813,921 (GRCm39) T798K probably damaging Het
Klk1b8 G A 7: 43,451,605 (GRCm39) A199T probably damaging Het
Lgi2 T C 5: 52,711,775 (GRCm39) T182A probably benign Het
Ltbp2 C A 12: 84,900,638 (GRCm39) R228L probably damaging Het
Lyrm1 A G 7: 119,509,090 (GRCm39) K22E possibly damaging Het
Mybbp1a A G 11: 72,339,897 (GRCm39) D967G probably benign Het
Nr6a1 C T 2: 38,630,485 (GRCm39) R259Q probably benign Het
Or4e2 A G 14: 52,687,929 (GRCm39) N20D probably benign Het
Or51aa5 T C 7: 103,167,446 (GRCm39) I48M probably benign Het
Or51i1 C A 7: 103,670,698 (GRCm39) V276F probably damaging Het
Pak5 A T 2: 135,958,812 (GRCm39) I92N probably damaging Het
Pcdhb5 T A 18: 37,454,664 (GRCm39) I348K possibly damaging Het
Phf2 C T 13: 48,957,134 (GRCm39) A1078T probably damaging Het
Rnf103 T C 6: 71,487,049 (GRCm39) V560A probably benign Het
Slc27a4 A G 2: 29,701,608 (GRCm39) I409V probably benign Het
Spata18 T A 5: 73,809,017 (GRCm39) probably null Het
Spon1 A G 7: 113,632,311 (GRCm39) T545A probably damaging Het
Stab1 A G 14: 30,877,722 (GRCm39) S772P probably damaging Het
Stox2 A T 8: 47,645,304 (GRCm39) S719T probably benign Het
Syne1 A G 10: 4,980,394 (GRCm39) V864A probably benign Het
Syngap1 A G 17: 27,180,579 (GRCm39) S836G probably benign Het
Tiparp G T 3: 65,439,577 (GRCm39) E298* probably null Het
Tmem52 A G 4: 155,554,615 (GRCm39) T114A probably damaging Het
Trim36 C A 18: 46,329,281 (GRCm39) C53F probably damaging Het
Ttn T C 2: 76,720,811 (GRCm39) K6871R unknown Het
Ttn C A 2: 76,715,468 (GRCm39) probably null Het
Ube2d1 T C 10: 71,098,094 (GRCm39) probably null Het
Unc13c T C 9: 73,838,824 (GRCm39) T676A probably benign Het
Vinac1 A T 2: 128,878,838 (GRCm39) D1029E unknown Het
Vps13a A T 19: 16,719,908 (GRCm39) Y417N possibly damaging Het
Zfp729a C T 13: 67,767,673 (GRCm39) C852Y probably damaging Het
Other mutations in Inka1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Inka1 APN 9 107,861,656 (GRCm39) missense probably damaging 1.00
R1803:Inka1 UTSW 9 107,861,938 (GRCm39) missense probably benign 0.06
R2860:Inka1 UTSW 9 107,861,603 (GRCm39) missense probably benign
R2861:Inka1 UTSW 9 107,861,603 (GRCm39) missense probably benign
R3407:Inka1 UTSW 9 107,862,253 (GRCm39) missense probably damaging 1.00
R7387:Inka1 UTSW 9 107,861,626 (GRCm39) missense probably damaging 1.00
R7914:Inka1 UTSW 9 107,862,761 (GRCm39) unclassified probably benign
R8315:Inka1 UTSW 9 107,861,506 (GRCm39) missense probably damaging 1.00
R9497:Inka1 UTSW 9 107,861,938 (GRCm39) missense probably benign 0.06
R9563:Inka1 UTSW 9 107,861,488 (GRCm39) missense probably benign 0.33
R9565:Inka1 UTSW 9 107,861,488 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- CCTACTGCGCATAGGAATGTC -3'
(R):5'- CAGGGGCTAAGAGATTCCTG -3'

Sequencing Primer
(F):5'- TACTGCGCATAGGAATGTCACTGAC -3'
(R):5'- GAGATTCCTGACCAACATTTGC -3'
Posted On 2022-07-18