Incidental Mutation 'R6952:Ccdc148'
ID 543271
Institutional Source Beutler Lab
Gene Symbol Ccdc148
Ensembl Gene ENSMUSG00000036641
Gene Name coiled-coil domain containing 148
Synonyms
MMRRC Submission 045064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6952 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 58711082-58991027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58713657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 498 (H498R)
Ref Sequence ENSEMBL: ENSMUSP00000076871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077687] [ENSMUST00000226455]
AlphaFold Q6P5U8
Predicted Effect probably damaging
Transcript: ENSMUST00000077687
AA Change: H498R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: H498R

DomainStartEndE-ValueType
coiled coil region 173 195 N/A INTRINSIC
coiled coil region 289 353 N/A INTRINSIC
low complexity region 369 382 N/A INTRINSIC
coiled coil region 401 438 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226455
AA Change: H570R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T G 16: 20,368,484 (GRCm39) probably null Het
Acap1 C A 11: 69,776,343 (GRCm39) V219L probably benign Het
Arpp21 G A 9: 111,955,550 (GRCm39) P530S probably damaging Het
Atp6v1b1 T C 6: 83,731,792 (GRCm39) V224A probably damaging Het
Brd3 T C 2: 27,344,371 (GRCm39) D453G probably damaging Het
Btbd10 A T 7: 112,951,150 (GRCm39) probably null Het
Cga A T 4: 34,905,171 (GRCm39) Y65F possibly damaging Het
Chd7 A T 4: 8,856,797 (GRCm39) H136L probably damaging Het
Chit1 T C 1: 134,071,022 (GRCm39) Y34H probably damaging Het
Cimap2 C G 4: 106,467,596 (GRCm39) probably null Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnhd1 T G 7: 105,362,895 (GRCm39) V3819G probably damaging Het
Dsg3 A T 18: 20,658,216 (GRCm39) I276F possibly damaging Het
Dusp1 T C 17: 26,726,577 (GRCm39) S162G probably benign Het
Entrep1 A T 19: 23,962,082 (GRCm39) M307K possibly damaging Het
Gga2 C A 7: 121,598,111 (GRCm39) A328S probably benign Het
Gpr183 A G 14: 122,191,897 (GRCm39) I208T possibly damaging Het
Haspin T C 11: 73,026,971 (GRCm39) D706G possibly damaging Het
Hdac5 T C 11: 102,095,786 (GRCm39) I338V probably benign Het
Ik C T 18: 36,886,613 (GRCm39) R362C probably damaging Het
Kdm4c T G 4: 74,275,587 (GRCm39) C754W probably damaging Het
Limk1 T A 5: 134,699,332 (GRCm39) I142F possibly damaging Het
Mccc2 T C 13: 100,104,234 (GRCm39) E305G probably benign Het
Mdm1 A G 10: 118,003,962 (GRCm39) D639G probably damaging Het
Mefv T G 16: 3,528,744 (GRCm39) T566P probably damaging Het
Mep1b G A 18: 21,221,727 (GRCm39) V226I probably benign Het
Mgmt T C 7: 136,553,064 (GRCm39) M19T probably benign Het
Mrgpra6 A T 7: 46,835,693 (GRCm39) S243T probably benign Het
Myh7 C T 14: 55,229,197 (GRCm39) R169Q probably damaging Het
Myo1b T C 1: 51,801,668 (GRCm39) I917V probably damaging Het
Or4a80 A T 2: 89,582,971 (GRCm39) M67K possibly damaging Het
Phlpp1 T C 1: 106,100,209 (GRCm39) L159P probably benign Het
Plekhh3 T C 11: 101,056,482 (GRCm39) E371G probably damaging Het
Rps6ka2 C A 17: 7,495,377 (GRCm39) D21E probably benign Het
Slc47a1 T A 11: 61,235,280 (GRCm39) M518L probably benign Het
Slitrk6 T C 14: 110,987,974 (GRCm39) T578A probably benign Het
Syne2 A T 12: 75,974,205 (GRCm39) K1133N possibly damaging Het
Taco1 T C 11: 105,963,942 (GRCm39) S234P probably benign Het
Trpv4 G A 5: 114,771,263 (GRCm39) S422F probably damaging Het
Tvp23b T A 11: 62,775,952 (GRCm39) D97E possibly damaging Het
Vmn1r37 A T 6: 66,708,523 (GRCm39) I13L probably benign Het
Vrk2 T A 11: 26,485,597 (GRCm39) K130N probably damaging Het
Wdfy4 C T 14: 32,681,923 (GRCm39) R3016Q probably damaging Het
Zfp383 T C 7: 29,614,380 (GRCm39) S212P probably benign Het
Other mutations in Ccdc148
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Ccdc148 APN 2 58,719,811 (GRCm39) missense probably benign 0.00
IGL02056:Ccdc148 APN 2 58,894,081 (GRCm39) splice site probably benign
IGL02470:Ccdc148 APN 2 58,891,911 (GRCm39) missense probably damaging 0.96
PIT4585001:Ccdc148 UTSW 2 58,872,988 (GRCm39) missense probably benign 0.01
R0068:Ccdc148 UTSW 2 58,717,629 (GRCm39) missense probably benign
R0068:Ccdc148 UTSW 2 58,717,629 (GRCm39) missense probably benign
R0348:Ccdc148 UTSW 2 58,894,084 (GRCm39) splice site probably null
R1464:Ccdc148 UTSW 2 58,824,455 (GRCm39) missense probably damaging 1.00
R1464:Ccdc148 UTSW 2 58,824,455 (GRCm39) missense probably damaging 1.00
R1464:Ccdc148 UTSW 2 58,796,374 (GRCm39) nonsense probably null
R1464:Ccdc148 UTSW 2 58,796,374 (GRCm39) nonsense probably null
R1675:Ccdc148 UTSW 2 58,870,566 (GRCm39) missense probably damaging 0.96
R1677:Ccdc148 UTSW 2 58,892,176 (GRCm39) missense probably damaging 1.00
R1832:Ccdc148 UTSW 2 58,891,911 (GRCm39) missense probably damaging 0.96
R1918:Ccdc148 UTSW 2 58,872,911 (GRCm39) missense probably damaging 1.00
R2114:Ccdc148 UTSW 2 58,892,128 (GRCm39) missense probably damaging 1.00
R2115:Ccdc148 UTSW 2 58,892,128 (GRCm39) missense probably damaging 1.00
R4657:Ccdc148 UTSW 2 58,891,900 (GRCm39) missense probably benign 0.04
R4921:Ccdc148 UTSW 2 58,719,814 (GRCm39) missense probably damaging 1.00
R5022:Ccdc148 UTSW 2 58,717,644 (GRCm39) missense probably damaging 1.00
R5809:Ccdc148 UTSW 2 58,713,657 (GRCm39) missense probably damaging 1.00
R6164:Ccdc148 UTSW 2 58,713,645 (GRCm39) missense probably damaging 1.00
R6987:Ccdc148 UTSW 2 58,872,926 (GRCm39) missense probably damaging 1.00
R7121:Ccdc148 UTSW 2 58,717,579 (GRCm39) missense probably damaging 1.00
R7452:Ccdc148 UTSW 2 58,717,596 (GRCm39) missense probably damaging 1.00
R7493:Ccdc148 UTSW 2 58,899,160 (GRCm39) missense probably damaging 1.00
R7574:Ccdc148 UTSW 2 58,713,645 (GRCm39) missense probably damaging 1.00
R7666:Ccdc148 UTSW 2 58,824,512 (GRCm39) missense probably damaging 0.99
R7763:Ccdc148 UTSW 2 58,713,648 (GRCm39) missense probably benign
R8045:Ccdc148 UTSW 2 58,892,083 (GRCm39) critical splice donor site probably null
R8865:Ccdc148 UTSW 2 58,719,832 (GRCm39) missense possibly damaging 0.86
R8932:Ccdc148 UTSW 2 58,894,054 (GRCm39) missense probably benign 0.40
R9597:Ccdc148 UTSW 2 58,893,397 (GRCm39) missense probably benign 0.08
X0062:Ccdc148 UTSW 2 58,893,460 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGCGAACAAAACTTTGAAGC -3'
(R):5'- ATGCGACTTGGGAAACAAAC -3'

Sequencing Primer
(F):5'- ATAAATGCTGTGATTTCTCTGTGCAG -3'
(R):5'- CGACTTGGGAAACAAACCGGAAG -3'
Posted On 2018-11-28