Incidental Mutation 'R5568:Crispld1'
ID 436976
Institutional Source Beutler Lab
Gene Symbol Crispld1
Ensembl Gene ENSMUSG00000025776
Gene Name cysteine-rich secretory protein LCCL domain containing 1
Synonyms Cocoacrisp
MMRRC Submission 043125-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5568 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 17797269-17836568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17820495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 292 (I292N)
Ref Sequence ENSEMBL: ENSMUSP00000124095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095075] [ENSMUST00000159958] [ENSMUST00000160305]
AlphaFold Q8CGD2
Predicted Effect probably benign
Transcript: ENSMUST00000095075
AA Change: I292N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: I292N

DomainStartEndE-ValueType
SCP 60 214 1.63e-41 SMART
LCCL 291 375 1.6e-52 SMART
LCCL 392 483 1.55e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159958
AA Change: I292N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: I292N

DomainStartEndE-ValueType
SCP 60 214 1.63e-41 SMART
LCCL 291 375 1.6e-52 SMART
LCCL 392 483 1.55e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160305
SMART Domains Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776

DomainStartEndE-ValueType
SCP 60 162 1.26e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189853
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,349,364 (GRCm39) V207A probably benign Het
Abcc10 C A 17: 46,614,834 (GRCm39) probably null Het
Abcc9 A C 6: 142,634,742 (GRCm39) V174G possibly damaging Het
Abl1 C T 2: 31,669,086 (GRCm39) A155V probably damaging Het
Aco2 T A 15: 81,787,787 (GRCm39) D212E probably damaging Het
Adam26b A T 8: 43,973,529 (GRCm39) M491K probably benign Het
Anapc5 G A 5: 122,929,988 (GRCm39) probably benign Het
Atf7 A G 15: 102,471,757 (GRCm39) I46T probably damaging Het
Cacna1b A G 2: 24,497,612 (GRCm39) S2100P probably damaging Het
Capn5 T A 7: 97,775,137 (GRCm39) D501V probably damaging Het
Cc2d2a A G 5: 43,866,433 (GRCm39) M748V probably damaging Het
Cd300c2 T C 11: 114,891,662 (GRCm39) T71A probably damaging Het
Chmp2a T C 7: 12,767,758 (GRCm39) M56V probably benign Het
Cilp A C 9: 65,187,515 (GRCm39) R1203S probably benign Het
Clp1 T A 2: 84,556,322 (GRCm39) K53* probably null Het
Crhbp T A 13: 95,578,737 (GRCm39) D128V probably damaging Het
Cyp2c68 A T 19: 39,677,526 (GRCm39) I488N probably benign Het
Cyp3a57 A T 5: 145,307,456 (GRCm39) M149L probably benign Het
Ddx24 T A 12: 103,390,547 (GRCm39) Q59L possibly damaging Het
Ddx27 A G 2: 166,871,439 (GRCm39) H512R possibly damaging Het
Dlgap4 T A 2: 156,604,821 (GRCm39) *993K probably null Het
Dmxl2 A T 9: 54,330,643 (GRCm39) probably null Het
Dus4l A T 12: 31,696,712 (GRCm39) F88L probably damaging Het
Ep400 A T 5: 110,904,071 (GRCm39) V176E probably damaging Het
Fat3 T A 9: 16,288,219 (GRCm39) K435* probably null Het
Fsip2 T C 2: 82,816,908 (GRCm39) C4214R probably benign Het
Garin5a T G 7: 44,150,428 (GRCm39) S207A probably damaging Het
Gfral T C 9: 76,072,087 (GRCm39) *394W probably null Het
Glis1 T C 4: 107,476,832 (GRCm39) S518P probably damaging Het
H2-T10 A G 17: 36,430,079 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,278,679 (GRCm39) T35A possibly damaging Het
Ighv5-12 A G 12: 113,665,837 (GRCm39) F87S probably damaging Het
Ints13 A C 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kbtbd12 C T 6: 88,595,609 (GRCm39) D74N probably damaging Het
Klrb1c A G 6: 128,765,877 (GRCm39) probably benign Het
Kmt5b A T 19: 3,836,538 (GRCm39) H25L probably benign Het
Krt28 A T 11: 99,262,210 (GRCm39) M260K probably damaging Het
Krt79 A G 15: 101,838,220 (GRCm39) S512P probably damaging Het
Lama1 A T 17: 68,075,293 (GRCm39) probably null Het
Maneal T C 4: 124,750,937 (GRCm39) E273G possibly damaging Het
Map4k3 T A 17: 80,971,427 (GRCm39) Y80F possibly damaging Het
Mbd6 A G 10: 127,119,297 (GRCm39) V946A possibly damaging Het
Mfsd14b A T 13: 65,219,936 (GRCm39) probably null Het
Mrpl46 C G 7: 78,430,242 (GRCm39) W176S probably damaging Het
Muc19 A G 15: 91,768,468 (GRCm39) noncoding transcript Het
Mup3 T G 4: 62,002,809 (GRCm39) E184A possibly damaging Het
Myo9a A G 9: 59,781,911 (GRCm39) H1699R probably benign Het
Ndrg2 T A 14: 52,144,420 (GRCm39) T269S probably damaging Het
Nfatc1 A T 18: 80,693,037 (GRCm39) V688D probably benign Het
Ninj2 T C 6: 120,175,670 (GRCm39) I101T probably benign Het
Nlrp10 T A 7: 108,523,468 (GRCm39) M671L probably benign Het
Npsr1 T A 9: 24,224,510 (GRCm39) L296I probably damaging Het
Or10d5 A G 9: 39,861,983 (GRCm39) L28P probably benign Het
Or52r1b G T 7: 102,691,517 (GRCm39) R272L possibly damaging Het
Pacsin1 T A 17: 27,927,022 (GRCm39) D242E probably damaging Het
Pcdh1 T C 18: 38,330,420 (GRCm39) Y861C probably damaging Het
Pcdha12 T C 18: 37,153,443 (GRCm39) L54P probably damaging Het
Pcdhb18 T A 18: 37,624,853 (GRCm39) S728T probably benign Het
Phyhd1 T A 2: 30,167,022 (GRCm39) H108Q probably damaging Het
Plcb1 A T 2: 135,212,513 (GRCm39) I1035F probably damaging Het
Plcl1 T C 1: 55,735,309 (GRCm39) S217P possibly damaging Het
Plppr2 G A 9: 21,852,425 (GRCm39) R103H probably damaging Het
Plxnb2 G A 15: 89,041,638 (GRCm39) T1722I probably damaging Het
Pole3 T C 4: 62,442,668 (GRCm39) N53S probably damaging Het
Ptk6 A T 2: 180,841,488 (GRCm39) N140K possibly damaging Het
Rab12 C T 17: 66,804,418 (GRCm39) R180H probably damaging Het
Rab36 G T 10: 74,888,311 (GRCm39) V252L probably benign Het
Ranbp3 T C 17: 57,008,543 (GRCm39) probably null Het
Rapgef2 A G 3: 79,011,308 (GRCm39) L259P probably damaging Het
Rigi T A 4: 40,222,140 (GRCm39) M380L probably benign Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Scd2 T C 19: 44,288,142 (GRCm39) F178S probably damaging Het
Shmt2 A G 10: 127,356,250 (GRCm39) S87P probably damaging Het
Slf1 T A 13: 77,194,823 (GRCm39) D834V probably damaging Het
Sorcs2 A C 5: 36,203,874 (GRCm39) Y540* probably null Het
Srpk2 T A 5: 23,730,697 (GRCm39) Q274L possibly damaging Het
Stradb T A 1: 59,031,901 (GRCm39) M271K possibly damaging Het
Tfec T A 6: 16,867,592 (GRCm39) Q16L possibly damaging Het
Tfg T C 16: 56,521,450 (GRCm39) T63A probably benign Het
Ticrr G A 7: 79,339,715 (GRCm39) probably null Het
Ticrr T A 7: 79,345,044 (GRCm39) C1636* probably null Het
Tln2 A G 9: 67,219,147 (GRCm39) I266T probably damaging Het
Tmcc1 G C 6: 115,999,071 (GRCm39) R323G possibly damaging Het
Tnnt3 A G 7: 142,065,777 (GRCm39) E138G probably damaging Het
Tpm2 C A 4: 43,522,692 (GRCm39) E75* probably null Het
Ttn T G 2: 76,580,922 (GRCm39) T23324P probably damaging Het
Ubr4 T G 4: 139,119,349 (GRCm39) L176R probably damaging Het
Uhrf2 G T 19: 30,016,488 (GRCm39) D46Y probably damaging Het
Ulbp1 A C 10: 7,423,281 (GRCm39) S21A unknown Het
Usp17lb C T 7: 104,490,415 (GRCm39) G170R probably damaging Het
Utp15 T C 13: 98,394,433 (GRCm39) N153S probably benign Het
Vcan T A 13: 89,836,790 (GRCm39) E2918V probably damaging Het
Vmn1r174 T A 7: 23,453,919 (GRCm39) I195K probably damaging Het
Vmn1r76 C T 7: 11,665,062 (GRCm39) V16I probably benign Het
Xdh T C 17: 74,250,880 (GRCm39) D24G possibly damaging Het
Xylb T A 9: 119,190,198 (GRCm39) H68Q probably benign Het
Other mutations in Crispld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Crispld1 APN 1 17,817,025 (GRCm39) missense probably benign 0.21
IGL01610:Crispld1 APN 1 17,816,949 (GRCm39) splice site probably null
IGL01991:Crispld1 APN 1 17,823,241 (GRCm39) missense probably benign
IGL02004:Crispld1 APN 1 17,817,744 (GRCm39) missense probably damaging 1.00
IGL02178:Crispld1 APN 1 17,832,327 (GRCm39) splice site probably benign
IGL02200:Crispld1 APN 1 17,820,557 (GRCm39) unclassified probably benign
IGL02251:Crispld1 APN 1 17,799,064 (GRCm39) missense probably benign 0.06
IGL02506:Crispld1 APN 1 17,826,529 (GRCm39) missense probably damaging 0.99
IGL02883:Crispld1 APN 1 17,817,013 (GRCm39) missense possibly damaging 0.87
IGL03310:Crispld1 APN 1 17,815,701 (GRCm39) splice site probably benign
milliliter UTSW 1 17,821,025 (GRCm39) missense possibly damaging 0.81
Spoonful UTSW 1 17,832,365 (GRCm39) missense probably damaging 1.00
R0068:Crispld1 UTSW 1 17,823,212 (GRCm39) missense possibly damaging 0.89
R0324:Crispld1 UTSW 1 17,819,815 (GRCm39) missense probably benign
R0542:Crispld1 UTSW 1 17,816,992 (GRCm39) missense possibly damaging 0.75
R1117:Crispld1 UTSW 1 17,819,846 (GRCm39) missense probably benign 0.03
R1157:Crispld1 UTSW 1 17,815,587 (GRCm39) missense possibly damaging 0.70
R1585:Crispld1 UTSW 1 17,821,024 (GRCm39) missense possibly damaging 0.68
R1630:Crispld1 UTSW 1 17,799,022 (GRCm39) missense probably benign
R2081:Crispld1 UTSW 1 17,832,403 (GRCm39) missense probably damaging 0.99
R2143:Crispld1 UTSW 1 17,819,860 (GRCm39) missense probably benign
R2472:Crispld1 UTSW 1 17,816,052 (GRCm39) missense probably null 0.12
R2520:Crispld1 UTSW 1 17,821,000 (GRCm39) missense probably damaging 1.00
R4476:Crispld1 UTSW 1 17,817,734 (GRCm39) missense probably damaging 1.00
R4486:Crispld1 UTSW 1 17,823,102 (GRCm39) missense probably benign 0.01
R4779:Crispld1 UTSW 1 17,819,831 (GRCm39) missense probably benign
R5508:Crispld1 UTSW 1 17,823,207 (GRCm39) missense probably damaging 1.00
R6155:Crispld1 UTSW 1 17,823,241 (GRCm39) missense probably benign
R6252:Crispld1 UTSW 1 17,819,731 (GRCm39) missense probably benign 0.00
R6361:Crispld1 UTSW 1 17,832,455 (GRCm39) missense probably damaging 0.99
R6617:Crispld1 UTSW 1 17,798,886 (GRCm39) missense probably benign 0.02
R6760:Crispld1 UTSW 1 17,821,025 (GRCm39) missense possibly damaging 0.81
R6961:Crispld1 UTSW 1 17,832,365 (GRCm39) missense probably damaging 1.00
R7278:Crispld1 UTSW 1 17,823,102 (GRCm39) missense probably benign 0.01
R7403:Crispld1 UTSW 1 17,817,820 (GRCm39) missense probably damaging 1.00
R7592:Crispld1 UTSW 1 17,798,990 (GRCm39) missense possibly damaging 0.64
R7837:Crispld1 UTSW 1 17,798,954 (GRCm39) missense probably benign 0.42
R8906:Crispld1 UTSW 1 17,820,995 (GRCm39) missense possibly damaging 0.95
R9331:Crispld1 UTSW 1 17,832,454 (GRCm39) missense probably damaging 0.99
R9477:Crispld1 UTSW 1 17,816,956 (GRCm39) missense probably benign 0.44
Z1088:Crispld1 UTSW 1 17,834,300 (GRCm39) missense probably benign
Z1176:Crispld1 UTSW 1 17,823,075 (GRCm39) missense possibly damaging 0.60
Z1176:Crispld1 UTSW 1 17,798,837 (GRCm39) start gained probably benign
Z1177:Crispld1 UTSW 1 17,834,316 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATCAGATGCTTAGACTTTGCATGG -3'
(R):5'- ACTCATACCTAAGTGACAGTTGTG -3'

Sequencing Primer
(F):5'- ATCTTTGAGTTTGAGGCCAGCC -3'
(R):5'- TACCTAAGTGACAGTTGTGGGAAAG -3'
Posted On 2016-10-24