Incidental Mutation 'R8179:Chp1'
ID 634528
Institutional Source Beutler Lab
Gene Symbol Chp1
Ensembl Gene ENSMUSG00000014077
Gene Name calcineurin-like EF hand protein 1
Synonyms Sid470p, 1500003O03Rik, vac
MMRRC Submission 067604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R8179 (G1)
Quality Score 138.008
Status Not validated
Chromosome 2
Chromosomal Location 119378178-119417508 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 119378253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014221] [ENSMUST00000060009] [ENSMUST00000119172] [ENSMUST00000133668]
AlphaFold P61022
Predicted Effect probably benign
Transcript: ENSMUST00000014221
SMART Domains Protein: ENSMUSP00000014221
Gene: ENSMUSG00000014077

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 benign
Transcript: ENSMUST00000060009
SMART Domains Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119172
SMART Domains Protein: ENSMUSP00000114013
Gene: ENSMUSG00000014077

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
Predicted Effect probably benign
Transcript: ENSMUST00000133668
SMART Domains Protein: ENSMUSP00000116082
Gene: ENSMUSG00000048647

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,136,100 (GRCm39) Y170H probably damaging Het
Ace3 G T 11: 105,895,383 (GRCm39) V602L probably benign Het
Ahr T C 12: 35,560,050 (GRCm39) Q201R probably benign Het
Aldh18a1 A C 19: 40,545,952 (GRCm39) C612G probably damaging Het
Ankrd40 G A 11: 94,225,541 (GRCm39) A191T probably benign Het
Aox1 A G 1: 58,137,117 (GRCm39) D1169G probably damaging Het
Arfgap2 T C 2: 91,105,668 (GRCm39) F505L probably damaging Het
Arhgap40 T C 2: 158,381,776 (GRCm39) F423L probably damaging Het
Atf6b T C 17: 34,872,968 (GRCm39) M628T probably damaging Het
Casp8ap2 T A 4: 32,643,939 (GRCm39) L1004* probably null Het
Cc2d2a T A 5: 43,857,295 (GRCm39) L494Q probably damaging Het
Cd180 T C 13: 102,842,141 (GRCm39) S396P probably benign Het
Cdk19 T C 10: 40,270,368 (GRCm39) I59T possibly damaging Het
Cfap54 G T 10: 92,833,178 (GRCm39) F1149L possibly damaging Het
Clmp T C 9: 40,692,475 (GRCm39) F248S probably benign Het
Ctc1 T A 11: 68,915,050 (GRCm39) I237K probably benign Het
Dcaf1 G T 9: 106,735,115 (GRCm39) V688L probably damaging Het
Ddx54 T A 5: 120,765,167 (GRCm39) M812K probably benign Het
Disc1 C T 8: 125,814,316 (GRCm39) P60L probably benign Het
Disp2 C G 2: 118,623,030 (GRCm39) P1254R probably damaging Het
Dnah11 T A 12: 117,842,284 (GRCm39) I4432F possibly damaging Het
Dnajc15 A T 14: 78,090,393 (GRCm39) I58N Het
Elovl5 A G 9: 77,884,181 (GRCm39) N159S probably damaging Het
Fgfr3 T C 5: 33,885,099 (GRCm39) V71A probably benign Het
Frs2 A T 10: 116,912,791 (GRCm39) H167Q probably damaging Het
Gm4553 A T 7: 141,718,594 (GRCm39) V278E unknown Het
Grin2d A T 7: 45,507,452 (GRCm39) Y416* probably null Het
Hmcn1 A T 1: 150,598,265 (GRCm39) V1679E probably benign Het
Igkv18-36 T C 6: 69,969,479 (GRCm39) Y105C probably damaging Het
Lingo1 T C 9: 56,527,134 (GRCm39) D491G probably damaging Het
Map3k1 A C 13: 111,885,581 (GRCm39) I1445M probably damaging Het
Med30 A T 15: 52,575,964 (GRCm39) Q20L probably damaging Het
Mgat5b A G 11: 116,822,554 (GRCm39) E96G probably benign Het
Mmp16 T A 4: 17,853,854 (GRCm39) probably null Het
Mogat1 A G 1: 78,504,255 (GRCm39) D176G possibly damaging Het
Mre11a T A 9: 14,708,362 (GRCm39) D142E probably null Het
Mybpc2 C A 7: 44,159,254 (GRCm39) V599L probably benign Het
Myot A T 18: 44,487,197 (GRCm39) R345* probably null Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or10z1 T G 1: 174,078,130 (GRCm39) D121A possibly damaging Het
Or8g53 C T 9: 39,683,200 (GRCm39) V299I probably benign Het
Pglyrp2 T C 17: 32,635,003 (GRCm39) Y453C possibly damaging Het
Phrf1 A G 7: 140,836,493 (GRCm39) Y255C unknown Het
Plppr4 A G 3: 117,125,327 (GRCm39) S171P probably damaging Het
Ppip5k1 A T 2: 121,172,095 (GRCm39) probably null Het
Pramel57 T C 5: 95,667,753 (GRCm39) V111A probably benign Het
Rapgef3 A T 15: 97,658,621 (GRCm39) H170Q probably benign Het
Rnf10 ACCTCATCTCGTC AC 5: 115,398,176 (GRCm39) probably null Het
Rpe65 A G 3: 159,330,336 (GRCm39) Y501C probably benign Het
Ruvbl2 A G 7: 45,072,196 (GRCm39) I346T probably damaging Het
Sema3g A G 14: 30,942,542 (GRCm39) I48V probably benign Het
Slc4a10 A C 2: 62,073,792 (GRCm39) S285R possibly damaging Het
Slc6a11 G A 6: 114,222,567 (GRCm39) G521S probably benign Het
Slit3 A G 11: 35,554,903 (GRCm39) N912D probably benign Het
Traf3ip1 T C 1: 91,428,523 (GRCm39) V128A unknown Het
Trpc7 T A 13: 57,035,693 (GRCm39) N80I probably damaging Het
Ttc21b G A 2: 66,031,824 (GRCm39) H1031Y probably benign Het
Tubg2 A T 11: 101,051,082 (GRCm39) I235F probably benign Het
Ube2q2l A G 6: 136,378,240 (GRCm39) S197P probably damaging Het
Vmn2r118 A T 17: 55,915,484 (GRCm39) Y489N probably benign Het
Vmn2r54 G T 7: 12,366,018 (GRCm39) C305* probably null Het
Vmn2r86 G A 10: 130,288,953 (GRCm39) H183Y probably benign Het
Xrcc5 T C 1: 72,396,016 (GRCm39) V603A probably damaging Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null Het
Zfp112 C T 7: 23,825,063 (GRCm39) P348S 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
RF004:Chp1 UTSW 2 119,411,195 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATCGCCGCTTTAAGTCCG -3'
(R):5'- AGCCTTCGGTTACCCAAAGC -3'

Sequencing Primer
(F):5'- TTTAAGTCCGGCGGCTGC -3'
(R):5'- ACGACCGCTGTCAGTACTGAG -3'
Posted On 2020-07-13