Incidental Mutation 'R1675:Ccdc148'
ID 187977
Institutional Source Beutler Lab
Gene Symbol Ccdc148
Ensembl Gene ENSMUSG00000036641
Gene Name coiled-coil domain containing 148
Synonyms
MMRRC Submission 039711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1675 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 58821070-59160683 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58980554 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 317 (D317G)
Ref Sequence ENSEMBL: ENSMUSP00000153944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077687] [ENSMUST00000226455]
AlphaFold Q6P5U8
Predicted Effect probably benign
Transcript: ENSMUST00000077687
AA Change: D245G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: D245G

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: D317G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,263,411 (GRCm38) probably null Het
Adam6b T C 12: 113,491,044 (GRCm38) Y494H probably benign Het
Adamtsl2 GC G 2: 27,082,485 (GRCm38) probably null Het
Anapc2 G A 2: 25,272,639 (GRCm38) V42M possibly damaging Het
Aph1a T A 3: 95,894,899 (GRCm38) D64E possibly damaging Het
Arhgef11 C T 3: 87,731,211 (GRCm38) A1111V possibly damaging Het
Atoh1 T C 6: 64,730,157 (GRCm38) S279P probably benign Het
Atp10b A G 11: 43,225,648 (GRCm38) T941A probably damaging Het
Barhl1 C T 2: 28,915,411 (GRCm38) R90Q possibly damaging Het
Calr3 T C 8: 72,431,458 (GRCm38) D91G probably damaging Het
Cnn3 C T 3: 121,457,169 (GRCm38) Q19* probably null Het
Cul5 T C 9: 53,646,683 (GRCm38) D207G probably benign Het
Cyp4x1 T C 4: 115,127,560 (GRCm38) E41G possibly damaging Het
Dagla T A 19: 10,269,323 (GRCm38) M138L probably benign Het
Dnah6 A T 6: 73,129,540 (GRCm38) M1738K probably damaging Het
Eif4enif1 T A 11: 3,215,686 (GRCm38) S88T probably benign Het
Eno3 T C 11: 70,658,666 (GRCm38) probably null Het
Erbb3 C A 10: 128,571,204 (GRCm38) S1029I probably damaging Het
Erbin C A 13: 103,841,178 (GRCm38) V624L probably damaging Het
Fam170b C T 14: 32,835,402 (GRCm38) Q65* probably null Het
Fam208b T C 13: 3,569,507 (GRCm38) I2241M possibly damaging Het
Gin1 T A 1: 97,786,055 (GRCm38) L360* probably null Het
Gldc A T 19: 30,143,453 (GRCm38) D359E probably damaging Het
Gpr107 A T 2: 31,167,051 (GRCm38) T52S possibly damaging Het
Hip1r A G 5: 123,994,820 (GRCm38) Y227C probably damaging Het
Hmgxb3 A G 18: 61,135,559 (GRCm38) L1004P probably damaging Het
Hspa1l A G 17: 34,977,443 (GRCm38) N153D probably damaging Het
Itga8 C A 2: 12,200,163 (GRCm38) V488L probably damaging Het
Kcnk10 G A 12: 98,496,288 (GRCm38) A134V probably benign Het
Kif18a T A 2: 109,298,403 (GRCm38) C406S probably benign Het
Klhl28 A T 12: 64,951,819 (GRCm38) S300R probably damaging Het
Kmt2e C T 5: 23,482,453 (GRCm38) Q434* probably null Het
Lilrb4a A G 10: 51,496,185 (GRCm38) T222A probably benign Het
Lipn G A 19: 34,080,710 (GRCm38) R277Q probably damaging Het
Lrrc61 G A 6: 48,568,774 (GRCm38) R177Q possibly damaging Het
Lrrc74a G A 12: 86,741,026 (GRCm38) E144K probably damaging Het
Mal T C 2: 127,635,044 (GRCm38) Y77C probably benign Het
Map1a T A 2: 121,302,655 (GRCm38) C1079* probably null Het
Mbd5 T A 2: 49,256,218 (GRCm38) S147T possibly damaging Het
Nsd2 T A 5: 33,861,149 (GRCm38) M509K probably benign Het
Olfr1342 C T 4: 118,689,948 (GRCm38) R168H probably benign Het
Olfr262 C T 19: 12,240,831 (GRCm38) V277I probably benign Het
Olfr414 T C 1: 174,431,097 (GRCm38) V223A probably benign Het
Olfr51 T C 11: 51,007,637 (GRCm38) F222L probably benign Het
Rcor2 C T 19: 7,270,181 (GRCm38) L45F probably damaging Het
Rpl12 T A 2: 32,963,525 (GRCm38) D107E probably benign Het
Rpl7l1 A T 17: 46,778,191 (GRCm38) F205I probably damaging Het
Samd4b C T 7: 28,414,010 (GRCm38) G177R probably damaging Het
Sema4a A T 3: 88,454,766 (GRCm38) F18I possibly damaging Het
Slc37a1 A T 17: 31,338,074 (GRCm38) T405S probably damaging Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Syt14 T C 1: 192,897,482 (GRCm38) D781G probably damaging Het
Tprn T G 2: 25,264,409 (GRCm38) D574E probably benign Het
Trim75 T A 8: 64,982,511 (GRCm38) E429V probably damaging Het
Trit1 C T 4: 123,054,236 (GRCm38) R450C possibly damaging Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Unc13c A G 9: 73,639,050 (GRCm38) probably null Het
Usp49 C A 17: 47,673,410 (GRCm38) L447I probably damaging Het
Vmn1r20 T C 6: 57,431,952 (GRCm38) C88R probably benign Het
Zfp94 T A 7: 24,302,834 (GRCm38) K394N probably damaging Het
Other mutations in Ccdc148
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Ccdc148 APN 2 58,829,799 (GRCm38) missense probably benign 0.00
IGL02056:Ccdc148 APN 2 59,004,069 (GRCm38) splice site probably benign
IGL02470:Ccdc148 APN 2 59,001,899 (GRCm38) missense probably damaging 0.96
PIT4585001:Ccdc148 UTSW 2 58,982,976 (GRCm38) missense probably benign 0.01
R0068:Ccdc148 UTSW 2 58,827,617 (GRCm38) missense probably benign
R0068:Ccdc148 UTSW 2 58,827,617 (GRCm38) missense probably benign
R0348:Ccdc148 UTSW 2 59,004,072 (GRCm38) splice site probably null
R1464:Ccdc148 UTSW 2 58,934,443 (GRCm38) missense probably damaging 1.00
R1464:Ccdc148 UTSW 2 58,934,443 (GRCm38) missense probably damaging 1.00
R1464:Ccdc148 UTSW 2 58,906,362 (GRCm38) nonsense probably null
R1464:Ccdc148 UTSW 2 58,906,362 (GRCm38) nonsense probably null
R1677:Ccdc148 UTSW 2 59,002,164 (GRCm38) missense probably damaging 1.00
R1832:Ccdc148 UTSW 2 59,001,899 (GRCm38) missense probably damaging 0.96
R1918:Ccdc148 UTSW 2 58,982,899 (GRCm38) missense probably damaging 1.00
R2114:Ccdc148 UTSW 2 59,002,116 (GRCm38) missense probably damaging 1.00
R2115:Ccdc148 UTSW 2 59,002,116 (GRCm38) missense probably damaging 1.00
R4657:Ccdc148 UTSW 2 59,001,888 (GRCm38) missense probably benign 0.04
R4921:Ccdc148 UTSW 2 58,829,802 (GRCm38) missense probably damaging 1.00
R5022:Ccdc148 UTSW 2 58,827,632 (GRCm38) missense probably damaging 1.00
R5809:Ccdc148 UTSW 2 58,823,645 (GRCm38) missense probably damaging 1.00
R6164:Ccdc148 UTSW 2 58,823,633 (GRCm38) missense probably damaging 1.00
R6952:Ccdc148 UTSW 2 58,823,645 (GRCm38) missense probably damaging 1.00
R6987:Ccdc148 UTSW 2 58,982,914 (GRCm38) missense probably damaging 1.00
R7121:Ccdc148 UTSW 2 58,827,567 (GRCm38) missense probably damaging 1.00
R7452:Ccdc148 UTSW 2 58,827,584 (GRCm38) missense probably damaging 1.00
R7493:Ccdc148 UTSW 2 59,009,148 (GRCm38) missense probably damaging 1.00
R7574:Ccdc148 UTSW 2 58,823,633 (GRCm38) missense probably damaging 1.00
R7666:Ccdc148 UTSW 2 58,934,500 (GRCm38) missense probably damaging 0.99
R7763:Ccdc148 UTSW 2 58,823,636 (GRCm38) missense probably benign
R8045:Ccdc148 UTSW 2 59,002,071 (GRCm38) critical splice donor site probably null
R8865:Ccdc148 UTSW 2 58,829,820 (GRCm38) missense possibly damaging 0.86
R8932:Ccdc148 UTSW 2 59,004,042 (GRCm38) missense probably benign 0.40
R9597:Ccdc148 UTSW 2 59,003,385 (GRCm38) missense probably benign 0.08
X0062:Ccdc148 UTSW 2 59,003,448 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCACATAGTTCCTGTTGCCGTC -3'
(R):5'- CTGCTTCCATCCTACCTGAGCAAAC -3'

Sequencing Primer
(F):5'- GCCGTCTCCTGTCCTTGG -3'
(R):5'- AGTCCCTGAACAGAGCTTGTG -3'
Posted On 2014-05-09