Incidental Mutation 'R1630:Crispld1'
ID 172708
Institutional Source Beutler Lab
Gene Symbol Crispld1
Ensembl Gene ENSMUSG00000025776
Gene Name cysteine-rich secretory protein LCCL domain containing 1
Synonyms Cocoacrisp
MMRRC Submission 039667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1630 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 17797269-17836568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17799022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 48 (T48A)
Ref Sequence ENSEMBL: ENSMUSP00000123800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095075] [ENSMUST00000159958] [ENSMUST00000160305]
AlphaFold Q8CGD2
Predicted Effect probably benign
Transcript: ENSMUST00000095075
AA Change: T48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: T48A

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 noncoding transcript
Transcript: ENSMUST00000127328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155588
Predicted Effect probably benign
Transcript: ENSMUST00000159958
AA Change: T48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: T48A

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
AA Change: T48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776
AA Change: T48A

DomainStartEndE-ValueType
SCP 60 162 1.26e-8 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429P17Rik C A 13: 48,114,201 (GRCm39) noncoding transcript Het
9930012K11Rik T C 14: 70,394,629 (GRCm39) E175G probably benign Het
A630091E08Rik A G 7: 98,192,814 (GRCm39) noncoding transcript Het
Atm A T 9: 53,390,973 (GRCm39) L1867Q probably damaging Het
Atp5f1a A G 18: 77,865,267 (GRCm39) D63G possibly damaging Het
Baz2b A T 2: 59,836,474 (GRCm39) S20T unknown Het
C1qtnf7 G A 5: 43,766,503 (GRCm39) C34Y possibly damaging Het
Cactin A G 10: 81,159,559 (GRCm39) T353A probably benign Het
Cdyl A G 13: 35,867,786 (GRCm39) K21E possibly damaging Het
Csmd3 T A 15: 47,701,918 (GRCm39) T1722S possibly damaging Het
Dapk1 A T 13: 60,877,345 (GRCm39) E528V probably damaging Het
Dennd4a A G 9: 64,779,164 (GRCm39) D549G probably benign Het
Dnajc5b C A 3: 19,628,905 (GRCm39) N66K probably damaging Het
Dusp16 G T 6: 134,697,524 (GRCm39) R250S probably damaging Het
F10 A G 8: 13,105,551 (GRCm39) N384S probably benign Het
Gabrr2 A G 4: 33,085,647 (GRCm39) S331G probably damaging Het
Gm12185 A C 11: 48,798,717 (GRCm39) I592S probably benign Het
Gm9755 T C 8: 67,967,312 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,245,746 (GRCm39) L913P probably damaging Het
Ifna1 T A 4: 88,768,566 (GRCm39) S81R probably benign Het
Iqgap2 T C 13: 95,826,293 (GRCm39) K510E probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lhx6 A G 2: 35,992,913 (GRCm39) Y140H probably damaging Het
Lix1 A G 17: 17,677,420 (GRCm39) H205R probably damaging Het
Masp2 A T 4: 148,698,490 (GRCm39) T524S probably benign Het
Mndal A C 1: 173,701,958 (GRCm39) F115V possibly damaging Het
Morc3 C A 16: 93,663,421 (GRCm39) N541K probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Nes T A 3: 87,884,984 (GRCm39) V1037E probably benign Het
Nfkbil1 A G 17: 35,440,140 (GRCm39) W178R probably damaging Het
Nobox A T 6: 43,284,146 (GRCm39) C8* probably null Het
Nwd1 A G 8: 73,393,657 (GRCm39) T348A possibly damaging Het
Or1e23 T C 11: 73,407,546 (GRCm39) T160A probably damaging Het
Or5bw2 T C 7: 6,573,673 (GRCm39) S228P probably damaging Het
Or8k17 A G 2: 86,066,430 (GRCm39) S243P probably damaging Het
Osbp2 T C 11: 3,667,167 (GRCm39) T448A probably benign Het
Plrg1 A G 3: 82,966,070 (GRCm39) D75G probably benign Het
Ppp1r8 T C 4: 132,556,748 (GRCm39) E213G probably benign Het
Rad54l2 A G 9: 106,580,828 (GRCm39) F898L possibly damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl10a G C 11: 5,009,542 (GRCm39) R110P probably damaging Het
Rttn T C 18: 89,061,078 (GRCm39) I1082T probably benign Het
Sema6d A G 2: 124,506,265 (GRCm39) D734G possibly damaging Het
Sgce C T 6: 4,719,476 (GRCm39) V44M probably damaging Het
Sgo2b A G 8: 64,380,831 (GRCm39) V667A possibly damaging Het
Shcbp1 A T 8: 4,798,763 (GRCm39) C118* probably null Het
Slain2 C T 5: 73,133,347 (GRCm39) P563S probably damaging Het
Slco1b2 A T 6: 141,602,547 (GRCm39) I167F probably damaging Het
Speg T C 1: 75,399,621 (GRCm39) L2356P probably damaging Het
Sptbn4 A G 7: 27,118,164 (GRCm39) V305A probably benign Het
Sspo G A 6: 48,434,658 (GRCm39) R1050H probably benign Het
Tmem106b A G 6: 13,081,540 (GRCm39) N149S probably benign Het
Tmem200a T C 10: 25,868,812 (GRCm39) T486A probably damaging Het
Tmem212 T A 3: 27,939,250 (GRCm39) T79S possibly damaging Het
Ttll11 A G 2: 35,779,337 (GRCm39) V471A probably damaging Het
Vill A G 9: 118,899,769 (GRCm39) N318D probably benign Het
Vmn2r102 A G 17: 19,899,032 (GRCm39) D458G possibly damaging Het
Zfp472 T A 17: 33,196,952 (GRCm39) C342* probably null Het
Zfp963 A T 8: 70,196,837 (GRCm39) 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
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
R5568:Crispld1 UTSW 1 17,820,495 (GRCm39) missense probably benign 0.01
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'- GGGGAAACCCAGAGGCCATTCA -3'
(R):5'- AGGTCCTAAGAGGCCCTAGAGCA -3'

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