Incidental Mutation 'R2364:Cabs1'
ID247267
Institutional Source Beutler Lab
Gene Symbol Cabs1
Ensembl Gene ENSMUSG00000007907
Gene Namecalcium binding protein, spermatid specific 1
Synonyms4931407G18Rik
MMRRC Submission 040345-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R2364 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location87979439-87981544 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87980233 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 248 (T248S)
Ref Sequence ENSEMBL: ENSMUSP00000008051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008051] [ENSMUST00000187738]
Predicted Effect probably benign
Transcript: ENSMUST00000008051
AA Change: T248S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000008051
Gene: ENSMUSG00000007907
AA Change: T248S

DomainStartEndE-ValueType
Pfam:CABS1 1 391 6.1e-192 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 138,165,823 S268P probably benign Het
Adam6a A G 12: 113,544,630 K208E probably benign Het
Anks6 A G 4: 47,027,248 S725P possibly damaging Het
Asb3 A G 11: 31,101,192 I549V probably benign Het
Blvrb A G 7: 27,448,133 I6V possibly damaging Het
Cdk5rap2 A G 4: 70,360,809 probably null Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Fpr1 A T 17: 17,877,610 L39* probably null Het
Gstm5 A G 3: 107,896,371 E40G probably benign Het
Hnrnpr A G 4: 136,327,329 M97V possibly damaging Het
Hs6st1 T C 1: 36,068,719 V21A probably benign Het
Hsp90aa1 A T 12: 110,692,753 F537I probably damaging Het
Insr T C 8: 3,174,820 D216G probably benign Het
Kif2a A T 13: 106,976,836 N428K probably damaging Het
Mapk10 G T 5: 103,038,641 N38K possibly damaging Het
Myh8 A G 11: 67,294,518 E865G probably benign Het
Olfr1328 C T 4: 118,934,033 E272K probably benign Het
Olfr1457 A G 19: 13,094,754 V298A probably damaging Het
Olfr357 T C 2: 36,997,565 Y252H probably damaging Het
Olfr731 A T 14: 50,238,155 H243Q probably damaging Het
Os9 T A 10: 127,119,138 K180N possibly damaging Het
Pcdhb20 A T 18: 37,505,938 I506F probably damaging Het
Pros1 T G 16: 62,913,848 L339R probably damaging Het
Srp72 A G 5: 76,984,362 I266V probably benign Het
Tmem245 A G 4: 56,899,391 V632A probably damaging Het
Tpcn1 G T 5: 120,553,494 C298* probably null Het
Ubfd1 T A 7: 122,068,944 D232E probably benign Het
Vamp1 A T 6: 125,240,343 I117L probably benign Het
Wwtr1 T C 3: 57,462,603 T364A possibly damaging Het
Zfp143 C A 7: 110,083,242 T339K probably damaging Het
Zfp317 A G 9: 19,647,735 D415G probably benign Het
Zfp628 A G 7: 4,920,687 H636R probably damaging Het
Zfp651 C T 9: 121,767,594 P672L probably damaging Het
Other mutations in Cabs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Cabs1 APN 5 87980010 missense possibly damaging 0.64
IGL01999:Cabs1 APN 5 87979928 missense possibly damaging 0.95
IGL02174:Cabs1 APN 5 87980480 missense probably benign
IGL02930:Cabs1 APN 5 87979886 missense probably damaging 0.99
R0126:Cabs1 UTSW 5 87980195 missense probably damaging 1.00
R1590:Cabs1 UTSW 5 87979631 missense probably damaging 0.99
R1893:Cabs1 UTSW 5 87980035 missense probably benign 0.00
R2257:Cabs1 UTSW 5 87980215 missense probably damaging 0.99
R4078:Cabs1 UTSW 5 87980302 missense probably damaging 0.99
R4914:Cabs1 UTSW 5 87980437 missense probably damaging 1.00
R5318:Cabs1 UTSW 5 87980566 missense possibly damaging 0.95
R5356:Cabs1 UTSW 5 87979633 missense probably benign
R6152:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6154:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6159:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6169:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6177:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6505:Cabs1 UTSW 5 87980663 missense possibly damaging 0.85
R7726:Cabs1 UTSW 5 87980286 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACTGAAACTGATGTTCCTTCC -3'
(R):5'- ACCTCGATTCCACAGCAGTG -3'

Sequencing Primer
(F):5'- GAAACTGATGTTCCTTCCTCTGC -3'
(R):5'- CAGAACAGCATGGGACTCTGC -3'
Posted On2014-10-30