Incidental Mutation 'R1157:Crispld1'
ID 101761
Institutional Source Beutler Lab
Gene Symbol Crispld1
Ensembl Gene ENSMUSG00000025776
Gene Name cysteine-rich secretory protein LCCL domain containing 1
Synonyms Cocoacrisp
MMRRC Submission 039230-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1157 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 17727045-17766344 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17745363 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 90 (V90M)
Ref Sequence ENSEMBL: ENSMUSP00000123800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095075] [ENSMUST00000159958] [ENSMUST00000160305]
AlphaFold Q8CGD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000095075
AA Change: V90M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: V90M

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 possibly damaging
Transcript: ENSMUST00000159958
AA Change: V90M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: V90M

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 possibly damaging
Transcript: ENSMUST00000160305
AA Change: V90M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776
AA Change: V90M

DomainStartEndE-ValueType
SCP 60 162 1.26e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189853
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C A 3: 95,683,661 S332I possibly damaging Het
Alpl A G 4: 137,754,020 V107A probably damaging Het
Baz1a A T 12: 54,929,564 F442L probably damaging Het
Cachd1 T A 4: 100,974,840 M733K possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cenpf A T 1: 189,658,453 C1061S probably benign Het
Ergic1 T A 17: 26,614,395 L41Q probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gas2l2 G A 11: 83,423,328 P386L probably benign Het
Gm21726 T C 13: 90,583,605 noncoding transcript Het
Gm7257 G A 9: 36,432,847 C42Y probably benign Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,260,635 probably null Het
Iqsec1 A G 6: 90,669,384 V771A possibly damaging Het
Klhl29 T C 12: 5,090,650 N664S possibly damaging Het
Krit1 T C 5: 3,832,176 Y659H probably damaging Het
Lap3 T A 5: 45,507,148 D373E probably damaging Het
Lrrc7 A G 3: 158,160,255 I1283T probably damaging Het
Lrrk1 T C 7: 66,262,283 Y1843C probably benign Het
Mapre1 T A 2: 153,758,017 D120E probably benign Het
Mgp A T 6: 136,873,206 M44K possibly damaging Het
Mrps25 A T 6: 92,183,966 M3K probably damaging Het
Myo3a G T 2: 22,542,414 probably null Het
Nedd9 C T 13: 41,314,503 probably null Het
Olfr371 G T 8: 85,231,260 C255F probably damaging Het
Olfr677 A G 7: 105,056,884 I213V probably benign Het
Olfr765 T G 10: 129,046,158 T302P probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pigs T C 11: 78,328,994 V65A possibly damaging Het
Pip5k1a G A 3: 95,078,112 T60I probably benign Het
Rp9 A T 9: 22,458,740 Y44N probably damaging Het
Tcea1 T A 1: 4,889,447 probably null Het
Trim33 C T 3: 103,353,830 T1098I probably damaging Het
Vmn2r114 T A 17: 23,310,340 I263F possibly damaging Het
Wdr12 A T 1: 60,078,230 S402R probably damaging Het
Zfp619 A G 7: 39,536,858 S771G probably damaging Het
Other mutations in Crispld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Crispld1 APN 1 17746801 missense probably benign 0.21
IGL01610:Crispld1 APN 1 17746725 splice site probably null
IGL01991:Crispld1 APN 1 17753017 missense probably benign
IGL02004:Crispld1 APN 1 17747520 missense probably damaging 1.00
IGL02178:Crispld1 APN 1 17762103 splice site probably benign
IGL02200:Crispld1 APN 1 17750333 unclassified probably benign
IGL02251:Crispld1 APN 1 17728840 missense probably benign 0.06
IGL02506:Crispld1 APN 1 17756305 missense probably damaging 0.99
IGL02883:Crispld1 APN 1 17746789 missense possibly damaging 0.87
IGL03310:Crispld1 APN 1 17745477 splice site probably benign
milliliter UTSW 1 17750801 missense possibly damaging 0.81
Spoonful UTSW 1 17762141 missense probably damaging 1.00
R0068:Crispld1 UTSW 1 17752988 missense possibly damaging 0.89
R0324:Crispld1 UTSW 1 17749591 missense probably benign
R0542:Crispld1 UTSW 1 17746768 missense possibly damaging 0.75
R1117:Crispld1 UTSW 1 17749622 missense probably benign 0.03
R1585:Crispld1 UTSW 1 17750800 missense possibly damaging 0.68
R1630:Crispld1 UTSW 1 17728798 missense probably benign
R2081:Crispld1 UTSW 1 17762179 missense probably damaging 0.99
R2143:Crispld1 UTSW 1 17749636 missense probably benign
R2472:Crispld1 UTSW 1 17745828 missense probably null 0.12
R2520:Crispld1 UTSW 1 17750776 missense probably damaging 1.00
R4476:Crispld1 UTSW 1 17747510 missense probably damaging 1.00
R4486:Crispld1 UTSW 1 17752878 missense probably benign 0.01
R4779:Crispld1 UTSW 1 17749607 missense probably benign
R5508:Crispld1 UTSW 1 17752983 missense probably damaging 1.00
R5568:Crispld1 UTSW 1 17750271 missense probably benign 0.01
R6155:Crispld1 UTSW 1 17753017 missense probably benign
R6252:Crispld1 UTSW 1 17749507 missense probably benign 0.00
R6361:Crispld1 UTSW 1 17762231 missense probably damaging 0.99
R6617:Crispld1 UTSW 1 17728662 missense probably benign 0.02
R6760:Crispld1 UTSW 1 17750801 missense possibly damaging 0.81
R6961:Crispld1 UTSW 1 17762141 missense probably damaging 1.00
R7278:Crispld1 UTSW 1 17752878 missense probably benign 0.01
R7403:Crispld1 UTSW 1 17747596 missense probably damaging 1.00
R7592:Crispld1 UTSW 1 17728766 missense possibly damaging 0.64
R7837:Crispld1 UTSW 1 17728730 missense probably benign 0.42
R8906:Crispld1 UTSW 1 17750771 missense possibly damaging 0.95
R9331:Crispld1 UTSW 1 17762230 missense probably damaging 0.99
R9477:Crispld1 UTSW 1 17746732 missense probably benign 0.44
Z1088:Crispld1 UTSW 1 17764076 missense probably benign
Z1176:Crispld1 UTSW 1 17728613 start gained probably benign
Z1176:Crispld1 UTSW 1 17752851 missense possibly damaging 0.60
Z1177:Crispld1 UTSW 1 17764092 frame shift probably null
Predicted Primers
Posted On 2014-01-15