Incidental Mutation 'RF004:Chp1'
ID 602675
Institutional Source Beutler Lab
Gene Symbol Chp1
Ensembl Gene ENSMUSG00000014077
Gene Name calcineurin-like EF hand protein 1
Synonyms Sid470p, 1500003O03Rik, vac
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.436) question?
Stock # RF004 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119378178-119417508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119411195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 123 (D123E)
Ref Sequence ENSEMBL: ENSMUSP00000014221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014221] [ENSMUST00000119172]
AlphaFold P61022
Predicted Effect probably damaging
Transcript: ENSMUST00000014221
AA Change: D123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014221
Gene: ENSMUSG00000014077
AA Change: D123E

DomainStartEndE-ValueType
Blast:EFh 30 58 8e-7 BLAST
EFh 114 142 4.81e-4 SMART
EFh 155 183 6.16e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119172
AA Change: D123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114013
Gene: ENSMUSG00000014077
AA Change: D123E

DomainStartEndE-ValueType
Pfam:EF-hand_6 30 63 2.1e-4 PFAM
EFh 114 142 4.81e-4 SMART
EFh 155 183 5.08e0 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU mutation display ataxia and progressive Purkinje cell axonal dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,575,645 (GRCm39) H126L probably benign Het
4930407I10Rik A T 15: 81,943,550 (GRCm39) Q54L possibly damaging Het
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
Adora2a A T 10: 75,168,988 (GRCm39) T151S probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,963 (GRCm39) probably benign Het
Ankrd36 A G 11: 5,612,411 (GRCm39) K1248E possibly damaging Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arl11 T C 14: 61,548,304 (GRCm39) V38A probably damaging Het
Atp2c2 A T 8: 120,479,561 (GRCm39) N726Y probably damaging Het
Bcat1 T C 6: 144,953,349 (GRCm39) K413R probably benign Het
Cd244a C G 1: 171,405,490 (GRCm39) Q292E probably benign Het
Cpeb4 ACTCT ACTCTCT 11: 31,877,634 (GRCm39) probably benign Het
Ddx6 A G 9: 44,535,789 (GRCm39) T173A possibly damaging Het
Dlg2 T A 7: 90,501,885 (GRCm39) C66S probably benign Het
Dnah2 T A 11: 69,328,013 (GRCm39) Q3370L probably benign Het
Dnmt1 GCACAGTTCCTACCTCGTT GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT 9: 20,821,423 (GRCm39) probably null Het
Dop1a T C 9: 86,436,244 (GRCm39) V2420A probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,118 (GRCm39) probably benign Het
Igkv6-25 TTGACGGA T 6: 70,192,647 (GRCm39) probably null Het
Iqgap1 G A 7: 80,370,623 (GRCm39) A1582V probably benign Het
Lmnb1 T C 18: 56,864,046 (GRCm39) I217T possibly damaging Het
Mamld1 CAG CAGTAG X: 70,162,437 (GRCm39) probably null Het
Map2k2 A T 10: 80,951,002 (GRCm39) H149L probably benign Het
Med12l CAG CAGAAG 3: 59,183,390 (GRCm39) probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nxph2 G A 2: 23,290,080 (GRCm39) R144Q probably damaging Het
Or2t48 CA C 11: 58,419,983 (GRCm39) probably null Het
Or51f1e T TTAG 7: 102,747,516 (GRCm39) probably null Het
Or51f1e GTTAT GTTATTAT 7: 102,747,512 (GRCm39) Het
Or51f1e AT ATTCT 7: 102,747,515 (GRCm39) probably benign Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or52n20 A G 7: 104,320,248 (GRCm39) E113G probably damaging Het
Or8d2 T C 9: 38,760,114 (GRCm39) F235L probably benign Het
Padi4 A T 4: 140,487,269 (GRCm39) V211E probably damaging Het
Prdm10 A C 9: 31,270,422 (GRCm39) D902A probably damaging Het
Prps1l1 A G 12: 35,035,398 (GRCm39) D171G probably damaging Het
Rasal3 A T 17: 32,610,081 (GRCm39) N1035K probably damaging Het
Rassf6 GGTCCTGTAGAGCAATGGGGATTC GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC 5: 90,756,778 (GRCm39) probably benign Het
Rbm26 A G 14: 105,388,931 (GRCm39) V320A probably damaging Het
S1pr1 A T 3: 115,506,536 (GRCm39) Y19* probably null Het
Slc22a16 A C 10: 40,479,642 (GRCm39) L571F possibly damaging Het
Smarca2 CAGC CAGCCCAAGC 19: 26,608,420 (GRCm39) probably benign Het
Ssx2ip A T 3: 146,132,195 (GRCm39) K219* probably null Het
Trav15-2-dv6-2 AAG AAGCAG 14: 53,887,212 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GAA GAATAA 14: 53,887,211 (GRCm39) probably null Het
Tsen15 A G 1: 152,259,470 (GRCm39) V63A probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Usp54 T A 14: 20,611,368 (GRCm39) E1149D possibly damaging Het
Vmn2r37 A T 7: 9,220,686 (GRCm39) S392R probably damaging Het
Wdr97 GAGGAGGA G 15: 76,247,373 (GRCm39) probably null Het
Zfp663 G T 2: 165,200,363 (GRCm39) H72Q probably benign Het
Zfp683 TGTGG TGTGGTGG 4: 133,786,185 (GRCm39) probably benign Het
Other mutations in Chp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03077:Chp1 APN 2 119,415,081 (GRCm39) missense probably benign 0.00
R0470:Chp1 UTSW 2 119,391,244 (GRCm39) missense probably damaging 1.00
R0497:Chp1 UTSW 2 119,402,263 (GRCm39) missense possibly damaging 0.49
R5875:Chp1 UTSW 2 119,402,296 (GRCm39) missense probably damaging 1.00
R6551:Chp1 UTSW 2 119,402,294 (GRCm39) missense possibly damaging 0.92
R7557:Chp1 UTSW 2 119,391,238 (GRCm39) missense probably damaging 0.97
R7633:Chp1 UTSW 2 119,391,226 (GRCm39) missense probably benign 0.00
R7689:Chp1 UTSW 2 119,415,146 (GRCm39) missense probably benign 0.04
R8179:Chp1 UTSW 2 119,378,253 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGGTAGGACTTTTACAGACACTG -3'
(R):5'- CCCACAGCAAGTATTTCCTGGTC -3'

Sequencing Primer
(F):5'- CAGATCTCTGAGTTCCAGGACAG -3'
(R):5'- ACAGCAAGTATTTCCTGGTCTTCTC -3'
Posted On 2019-12-04