Incidental Mutation 'R0534:Hrc'
ID 66938
Institutional Source Beutler Lab
Gene Symbol Hrc
Ensembl Gene ENSMUSG00000038239
Gene Name histidine rich calcium binding protein
Synonyms
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0534 (G1)
Quality Score 217
Status Not validated
Chromosome 7
Chromosomal Location 44984714-44988398 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AGAGGAGGAGGAAGAGGAGGAGGA to AGAGGAGGAGGAGGAAGAGGAGGAGGA at 44986659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000042194] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000210541] [ENSMUST00000211067] [ENSMUST00000211743] [ENSMUST00000211431] [ENSMUST00000211327]
AlphaFold G5E8J6
Predicted Effect probably benign
Transcript: ENSMUST00000003961
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863

DomainStartEndE-ValueType
coiled coil region 27 129 N/A INTRINSIC
coiled coil region 167 426 N/A INTRINSIC
coiled coil region 448 500 N/A INTRINSIC
low complexity region 534 550 N/A INTRINSIC
coiled coil region 597 642 N/A INTRINSIC
low complexity region 651 672 N/A INTRINSIC
low complexity region 707 719 N/A INTRINSIC
SAM 835 904 1.46e-10 SMART
SAM 950 1017 8.22e-5 SMART
SAM 1038 1110 3.58e-5 SMART
low complexity region 1156 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042194
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260

DomainStartEndE-ValueType
low complexity region 118 131 N/A INTRINSIC
SCOP:d1awcb_ 378 465 2e-3 SMART
low complexity region 600 612 N/A INTRINSIC
low complexity region 637 645 N/A INTRINSIC
transmembrane domain 688 710 N/A INTRINSIC
Pfam:Ion_trans 781 1051 1.8e-13 PFAM
low complexity region 1089 1096 N/A INTRINSIC
low complexity region 1191 1208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085351
SMART Domains Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 32 45 N/A INTRINSIC
internal_repeat_1 51 146 8.76e-11 PROSPERO
low complexity region 154 189 N/A INTRINSIC
Pfam:Hist_rich_Ca-bd 213 225 1e-4 PFAM
low complexity region 240 254 N/A INTRINSIC
low complexity region 260 274 N/A INTRINSIC
low complexity region 287 304 N/A INTRINSIC
Pfam:Hist_rich_Ca-bd 308 324 2.2e-8 PFAM
low complexity region 340 353 N/A INTRINSIC
low complexity region 362 382 N/A INTRINSIC
internal_repeat_1 399 490 8.76e-11 PROSPERO
coiled coil region 536 565 N/A INTRINSIC
low complexity region 571 582 N/A INTRINSIC
coiled coil region 594 621 N/A INTRINSIC
low complexity region 632 648 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210479
Predicted Effect probably benign
Transcript: ENSMUST00000210541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210586
Predicted Effect probably benign
Transcript: ENSMUST00000211067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210844
Predicted Effect probably benign
Transcript: ENSMUST00000211743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211098
Predicted Effect probably benign
Transcript: ENSMUST00000211431
Predicted Effect probably benign
Transcript: ENSMUST00000211327
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in impaired weight gain and weight loss around 1 year of age and increased susceptibility to induced cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging Het
Other mutations in Hrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03379:Hrc APN 7 44,986,679 (GRCm39) missense probably benign 0.27
BB004:Hrc UTSW 7 44,985,477 (GRCm39) missense possibly damaging 0.53
BB014:Hrc UTSW 7 44,985,477 (GRCm39) missense possibly damaging 0.53
R0017:Hrc UTSW 7 44,985,794 (GRCm39) missense possibly damaging 0.71
R0047:Hrc UTSW 7 44,986,113 (GRCm39) missense probably benign 0.00
R0047:Hrc UTSW 7 44,986,113 (GRCm39) missense probably benign 0.00
R0310:Hrc UTSW 7 44,985,921 (GRCm39) missense probably benign
R0436:Hrc UTSW 7 44,985,557 (GRCm39) missense possibly damaging 0.53
R1230:Hrc UTSW 7 44,985,887 (GRCm39) missense possibly damaging 0.85
R1808:Hrc UTSW 7 44,986,202 (GRCm39) missense probably damaging 0.99
R1975:Hrc UTSW 7 44,985,638 (GRCm39) missense probably damaging 0.98
R1977:Hrc UTSW 7 44,985,638 (GRCm39) missense probably damaging 0.98
R2258:Hrc UTSW 7 44,986,105 (GRCm39) missense possibly damaging 0.68
R2260:Hrc UTSW 7 44,986,105 (GRCm39) missense possibly damaging 0.68
R3551:Hrc UTSW 7 44,985,757 (GRCm39) missense possibly damaging 0.72
R3552:Hrc UTSW 7 44,985,757 (GRCm39) missense possibly damaging 0.72
R4169:Hrc UTSW 7 44,986,181 (GRCm39) missense probably benign 0.00
R5085:Hrc UTSW 7 44,986,445 (GRCm39) missense probably damaging 0.99
R5204:Hrc UTSW 7 44,985,128 (GRCm39) missense possibly damaging 0.96
R5215:Hrc UTSW 7 44,985,515 (GRCm39) missense probably damaging 0.99
R5245:Hrc UTSW 7 44,984,855 (GRCm39) missense probably damaging 1.00
R5390:Hrc UTSW 7 44,984,909 (GRCm39) missense probably damaging 0.96
R5432:Hrc UTSW 7 44,986,285 (GRCm39) missense possibly damaging 0.72
R5756:Hrc UTSW 7 44,986,130 (GRCm39) missense possibly damaging 0.85
R5761:Hrc UTSW 7 44,986,025 (GRCm39) splice site probably null
R5905:Hrc UTSW 7 44,985,658 (GRCm39) missense probably damaging 0.99
R6144:Hrc UTSW 7 44,986,157 (GRCm39) missense possibly damaging 0.86
R6684:Hrc UTSW 7 44,985,956 (GRCm39) missense possibly damaging 0.53
R6699:Hrc UTSW 7 44,985,119 (GRCm39) missense possibly damaging 0.85
R6809:Hrc UTSW 7 44,985,803 (GRCm39) missense probably benign
R6887:Hrc UTSW 7 44,985,088 (GRCm39) missense probably benign 0.18
R7178:Hrc UTSW 7 44,985,685 (GRCm39) missense possibly damaging 0.53
R7208:Hrc UTSW 7 44,985,989 (GRCm39) missense possibly damaging 0.53
R7258:Hrc UTSW 7 44,985,720 (GRCm39) missense possibly damaging 0.70
R7310:Hrc UTSW 7 44,985,227 (GRCm39) nonsense probably null
R7456:Hrc UTSW 7 44,986,320 (GRCm39) missense possibly damaging 0.83
R7525:Hrc UTSW 7 44,985,803 (GRCm39) missense probably benign
R7673:Hrc UTSW 7 44,986,658 (GRCm39) missense probably benign 0.00
R7734:Hrc UTSW 7 44,986,100 (GRCm39) missense probably benign 0.06
R7927:Hrc UTSW 7 44,985,477 (GRCm39) missense possibly damaging 0.53
R7952:Hrc UTSW 7 44,985,692 (GRCm39) missense probably damaging 0.98
R8080:Hrc UTSW 7 44,986,262 (GRCm39) missense probably damaging 0.96
R8823:Hrc UTSW 7 44,985,722 (GRCm39) missense possibly damaging 0.85
R9173:Hrc UTSW 7 44,986,799 (GRCm39) critical splice donor site probably null
R9358:Hrc UTSW 7 44,985,984 (GRCm39) missense probably benign 0.33
Z1177:Hrc UTSW 7 44,986,394 (GRCm39) missense probably benign 0.25
Predicted Primers
Posted On 2013-08-19