Incidental Mutation 'R1610:Chpf'
ID 176703
Institutional Source Beutler Lab
Gene Symbol Chpf
Ensembl Gene ENSMUSG00000032997
Gene Name chondroitin polymerizing factor
Synonyms 1700028N03Rik, D1Bwg1363e
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 75451213-75455951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75453292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 327 (V327A)
Ref Sequence ENSEMBL: ENSMUSP00000078199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000050899] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113575] [ENSMUST00000113577] [ENSMUST00000187411] [ENSMUST00000148980] [ENSMUST00000138683] [ENSMUST00000124042]
AlphaFold Q6IQX7
Predicted Effect probably benign
Transcript: ENSMUST00000037708
SMART Domains Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:ASC 45 464 5.3e-92 PFAM
low complexity region 507 533 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050899
SMART Domains Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
Pfam:DUF4203 40 236 7.2e-51 PFAM
low complexity region 252 302 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000079205
AA Change: V327A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: V327A

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
Pfam:CHGN 262 761 5e-150 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000094818
AA Change: V165A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: V165A

DomainStartEndE-ValueType
Pfam:CHGN 100 599 3.3e-174 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113575
SMART Domains Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
Pfam:DUF4203 39 237 2.2e-59 PFAM
low complexity region 252 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113577
SMART Domains Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:ASC 45 346 5.5e-94 PFAM
Pfam:ASC 344 446 1.4e-42 PFAM
low complexity region 488 514 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143496
Predicted Effect probably benign
Transcript: ENSMUST00000187411
SMART Domains Protein: ENSMUSP00000140795
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
Pfam:DUF4203 101 142 6.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148980
SMART Domains Protein: ENSMUSP00000116977
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:DUF4203 119 150 6.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138683
SMART Domains Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124042
SMART Domains Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice are viable and no detectable mutant phenotype is reported. Mice homozygous for another knock-out allele exhibit slight reduction in femur and tibia length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign Het
Other mutations in Chpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0659:Chpf UTSW 1 75,454,367 (GRCm39) missense probably damaging 0.98
R0789:Chpf UTSW 1 75,452,407 (GRCm39) missense probably damaging 1.00
R2384:Chpf UTSW 1 75,451,753 (GRCm39) missense probably benign
R3937:Chpf UTSW 1 75,454,184 (GRCm39) missense probably damaging 0.99
R4518:Chpf UTSW 1 75,451,689 (GRCm39) missense probably damaging 1.00
R5336:Chpf UTSW 1 75,452,351 (GRCm39) missense possibly damaging 0.96
R5859:Chpf UTSW 1 75,452,072 (GRCm39) missense probably damaging 0.99
R6152:Chpf UTSW 1 75,452,287 (GRCm39) missense possibly damaging 0.94
R7304:Chpf UTSW 1 75,455,698 (GRCm39) missense possibly damaging 0.82
R7396:Chpf UTSW 1 75,451,927 (GRCm39) missense probably benign 0.02
R7440:Chpf UTSW 1 75,452,245 (GRCm39) missense probably damaging 1.00
R7840:Chpf UTSW 1 75,453,271 (GRCm39) missense probably damaging 1.00
R7843:Chpf UTSW 1 75,454,931 (GRCm39) unclassified probably benign
R7891:Chpf UTSW 1 75,451,939 (GRCm39) missense probably benign 0.00
R7952:Chpf UTSW 1 75,455,586 (GRCm39) missense probably benign 0.00
R7979:Chpf UTSW 1 75,453,904 (GRCm39) nonsense probably null
R8159:Chpf UTSW 1 75,455,436 (GRCm39) missense probably null 1.00
R8399:Chpf UTSW 1 75,452,864 (GRCm39) missense probably benign 0.10
R8960:Chpf UTSW 1 75,452,398 (GRCm39) missense probably damaging 1.00
R9453:Chpf UTSW 1 75,452,854 (GRCm39) missense probably benign 0.23
Z1176:Chpf UTSW 1 75,452,114 (GRCm39) missense probably damaging 1.00
Z1176:Chpf UTSW 1 75,452,102 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAAGGTCAAAGCCCTGGCAGTG -3'
(R):5'- CCTCTGAGGCAGCTTTCACAGATG -3'

Sequencing Primer
(F):5'- GGGTTTGCTCTATGACTCTATCAC -3'
(R):5'- TGACTTTCCAAGTCCATAACTGG -3'
Posted On 2014-04-24