Incidental Mutation 'R7914:Inka1'
ID 647966
Institutional Source Beutler Lab
Gene Symbol Inka1
Ensembl Gene ENSMUSG00000042106
Gene Name inka box actin regulator 1
Synonyms Fam212a, 6230427J02Rik, Inka1
MMRRC Submission 045962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R7914 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107861422-107863078 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 107862761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134910 (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 benign
Transcript: ENSMUST00000048568
SMART Domains Protein: ENSMUSP00000040433
Gene: ENSMUSG00000042106

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 benign
Transcript: ENSMUST00000175914
SMART Domains Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (39/39)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,428,538 (GRCm39) V12F probably benign Het
Adnp2 T A 18: 80,174,056 (GRCm39) R118W probably damaging Het
Apaf1 G A 10: 90,896,095 (GRCm39) R337C probably damaging Het
Arhgef40 T C 14: 52,225,032 (GRCm39) L59P probably damaging Het
B020011L13Rik A G 1: 117,729,162 (GRCm39) E223G probably benign Het
Bcl6 T C 16: 23,788,761 (GRCm39) R536G possibly damaging Het
Bltp1 A T 3: 37,000,432 (GRCm39) N1204Y probably benign Het
Catsperg1 T C 7: 28,894,851 (GRCm39) E582G probably benign Het
Ccdc136 A G 6: 29,419,306 (GRCm39) N942S probably damaging Het
Ccdc81 A C 7: 89,524,988 (GRCm39) M531R possibly damaging Het
Cep78 T C 19: 15,953,672 (GRCm39) E283G probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
E230025N22Rik C A 18: 36,828,605 (GRCm39) R24S possibly damaging Het
Epb41l1 T A 2: 156,364,128 (GRCm39) M879K probably benign Het
Fam135a T C 1: 24,065,760 (GRCm39) Y1226C probably damaging Het
Fbxo11 T C 17: 88,320,031 (GRCm39) E151G Het
Herc6 A G 6: 57,584,106 (GRCm39) T322A probably benign Het
Kalrn T A 16: 33,849,122 (GRCm39) Q2110L probably benign Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lrrc19 T A 4: 94,526,537 (GRCm39) H340L probably damaging Het
Mkks A T 2: 136,722,876 (GRCm39) F94I probably damaging Het
Pcdhga3 T A 18: 37,808,013 (GRCm39) F155L probably benign Het
Pdlim1 T A 19: 40,240,445 (GRCm39) I53F probably damaging Het
Pttg1 A T 11: 43,316,421 (GRCm39) L26Q probably benign Het
Rasa4 T A 5: 136,130,510 (GRCm39) probably benign Het
Rsbn1l A G 5: 21,110,896 (GRCm39) S481P probably damaging Het
Sae1 C A 7: 16,121,648 (GRCm39) G10C unknown Het
Samd15 T C 12: 87,248,559 (GRCm39) S415P probably damaging Het
Scn7a T A 2: 66,530,294 (GRCm39) I684F probably damaging Het
Sec23b T A 2: 144,406,565 (GRCm39) M120K probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Slf2 T A 19: 44,947,499 (GRCm39) M821K possibly damaging Het
Suv39h2 G A 2: 3,465,453 (GRCm39) R301* probably null Het
Tgfbi A G 13: 56,777,502 (GRCm39) T329A probably damaging Het
Tmprss12 T C 15: 100,183,111 (GRCm39) F151S probably damaging Het
Ttn T C 2: 76,747,525 (GRCm39) D4508G probably benign Het
Tyk2 C A 9: 21,032,851 (GRCm39) C304F probably benign Het
Vmn1r121 T A 7: 20,831,589 (GRCm39) T284S probably benign Het
Vmn2r117 A G 17: 23,679,100 (GRCm39) I708T possibly damaging Het
Vmn2r2 A T 3: 64,041,526 (GRCm39) D396E probably benign Het
Zfc3h1 A G 10: 115,239,062 (GRCm39) probably null Het
Zic4 T G 9: 91,266,181 (GRCm39) V275G 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
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
R9505:Inka1 UTSW 9 107,862,092 (GRCm39) nonsense probably null
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'- AGCACTTCTTTAGGCCCTG -3'
(R):5'- AGGACAACTTCATCCTGCCC -3'

Sequencing Primer
(F):5'- ACTTCTTTAGGCCCTGGGTGC -3'
(R):5'- CGACCTGGAGAGTGTACAGC -3'
Posted On 2020-09-15