Incidental Mutation 'R1438:Cchcr1'
ID 160814
Institutional Source Beutler Lab
Gene Symbol Cchcr1
Ensembl Gene ENSMUSG00000040312
Gene Name coiled-coil alpha-helical rod protein 1
Synonyms Hcr
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # R1438 (G1)
Quality Score 177
Status Validated
Chromosome 17
Chromosomal Location 35827997-35841912 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 35841457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025273] [ENSMUST00000045956] [ENSMUST00000164242] [ENSMUST00000173903]
AlphaFold Q8K2I2
Predicted Effect probably benign
Transcript: ENSMUST00000025273
SMART Domains Protein: ENSMUSP00000025273
Gene: ENSMUSG00000024409

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:SPR1 22 135 1.3e-56 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000045956
SMART Domains Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164242
SMART Domains Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172893
Predicted Effect probably null
Transcript: ENSMUST00000173903
SMART Domains Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312

DomainStartEndE-ValueType
Pfam:HCR 110 855 N/A PFAM
Meta Mutation Damage Score 0.9581 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging Het
Other mutations in Cchcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Cchcr1 APN 17 35,839,469 (GRCm39) missense possibly damaging 0.92
IGL02723:Cchcr1 APN 17 35,841,699 (GRCm39) missense probably benign 0.00
IGL02806:Cchcr1 APN 17 35,836,153 (GRCm39) splice site probably benign
IGL03055:Cchcr1 UTSW 17 35,837,516 (GRCm39) missense probably benign 0.33
R0569:Cchcr1 UTSW 17 35,839,865 (GRCm39) critical splice donor site probably null
R2055:Cchcr1 UTSW 17 35,837,317 (GRCm39) missense probably damaging 1.00
R2511:Cchcr1 UTSW 17 35,841,410 (GRCm39) missense probably benign 0.01
R3910:Cchcr1 UTSW 17 35,836,233 (GRCm39) missense probably damaging 1.00
R3911:Cchcr1 UTSW 17 35,836,233 (GRCm39) missense probably damaging 1.00
R3913:Cchcr1 UTSW 17 35,836,233 (GRCm39) missense probably damaging 1.00
R5590:Cchcr1 UTSW 17 35,837,577 (GRCm39) missense probably damaging 1.00
R5821:Cchcr1 UTSW 17 35,839,745 (GRCm39) missense probably damaging 1.00
R5940:Cchcr1 UTSW 17 35,835,890 (GRCm39) missense probably damaging 1.00
R5941:Cchcr1 UTSW 17 35,835,890 (GRCm39) missense probably damaging 1.00
R6006:Cchcr1 UTSW 17 35,835,597 (GRCm39) missense possibly damaging 0.83
R6114:Cchcr1 UTSW 17 35,836,227 (GRCm39) missense probably damaging 0.98
R6146:Cchcr1 UTSW 17 35,839,475 (GRCm39) missense possibly damaging 0.92
R6262:Cchcr1 UTSW 17 35,841,413 (GRCm39) missense probably benign 0.04
R6369:Cchcr1 UTSW 17 35,839,073 (GRCm39) missense probably damaging 0.99
R6478:Cchcr1 UTSW 17 35,835,600 (GRCm39) missense possibly damaging 0.71
R6827:Cchcr1 UTSW 17 35,841,302 (GRCm39) missense possibly damaging 0.71
R6860:Cchcr1 UTSW 17 35,840,015 (GRCm39) missense possibly damaging 0.85
R7109:Cchcr1 UTSW 17 35,828,838 (GRCm39) critical splice donor site probably null
R7276:Cchcr1 UTSW 17 35,840,031 (GRCm39) missense possibly damaging 0.46
R7341:Cchcr1 UTSW 17 35,837,610 (GRCm39) missense probably benign 0.00
R7404:Cchcr1 UTSW 17 35,835,693 (GRCm39) missense probably benign 0.09
R7472:Cchcr1 UTSW 17 35,839,248 (GRCm39) missense probably damaging 1.00
R7666:Cchcr1 UTSW 17 35,837,383 (GRCm39) missense probably benign 0.01
R8189:Cchcr1 UTSW 17 35,837,563 (GRCm39) missense probably benign
R9276:Cchcr1 UTSW 17 35,841,105 (GRCm39) missense probably damaging 1.00
R9758:Cchcr1 UTSW 17 35,839,285 (GRCm39) critical splice donor site probably null
X0025:Cchcr1 UTSW 17 35,837,573 (GRCm39) missense probably benign 0.13
Z1177:Cchcr1 UTSW 17 35,839,560 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGCGCCAGATCCAGCACAAAG -3'
(R):5'- CAGGTTATCAAGCAGGACGGTCAG -3'

Sequencing Primer
(F):5'- CAGCAGGGAGCTAGTCAC -3'
(R):5'- CGGTCAGGGAGCCTGATAG -3'
Posted On 2014-03-14