Incidental Mutation 'R5625:Ccdc157'
ID441811
Institutional Source Beutler Lab
Gene Symbol Ccdc157
Ensembl Gene ENSMUSG00000051427
Gene Namecoiled-coil domain containing 157
Synonyms
MMRRC Submission 043164-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R5625 (G1)
Quality Score210
Status Validated
Chromosome11
Chromosomal Location4141123-4160293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4151888 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 11 (M11K)
Ref Sequence ENSEMBL: ENSMUSP00000091074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093381] [ENSMUST00000101626]
Predicted Effect probably damaging
Transcript: ENSMUST00000093381
AA Change: M11K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427
AA Change: M11K

DomainStartEndE-ValueType
low complexity region 76 88 N/A INTRINSIC
low complexity region 321 343 N/A INTRINSIC
low complexity region 385 414 N/A INTRINSIC
SCOP:d1fxkc_ 452 595 4e-5 SMART
low complexity region 639 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101626
SMART Domains Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427

DomainStartEndE-ValueType
low complexity region 219 241 N/A INTRINSIC
low complexity region 283 312 N/A INTRINSIC
SCOP:d1fxkc_ 350 493 3e-4 SMART
low complexity region 537 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139099
Meta Mutation Damage Score 0.1487 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T G 9: 44,278,036 D388A probably benign Het
Ampd3 A C 7: 110,802,523 E408A probably damaging Het
BC027072 T A 17: 71,751,326 D452V probably damaging Het
Bmp1 G T 14: 70,486,166 N743K probably benign Het
Brsk1 A G 7: 4,706,400 K398E probably damaging Het
Cep295 A C 9: 15,340,891 M394R probably damaging Het
Cfap44 G T 16: 44,460,347 probably null Het
Col13a1 C T 10: 61,843,609 G713R unknown Het
Cxcr2 A T 1: 74,158,832 K162* probably null Het
Cyp3a44 C T 5: 145,779,566 D405N possibly damaging Het
Exo1 G T 1: 175,893,814 D340Y possibly damaging Het
Farp2 T G 1: 93,528,748 L51R probably damaging Het
Fat4 A T 3: 38,888,934 I659F possibly damaging Het
Gbp2b T A 3: 142,599,045 W81R probably damaging Het
Gipc2 C T 3: 152,165,904 probably benign Het
Gm10941 G T 10: 77,258,836 probably benign Het
Gm1988 A T 7: 39,173,805 noncoding transcript Het
Hapln3 G T 7: 79,117,258 probably null Het
Ifi213 A G 1: 173,569,063 S482P possibly damaging Het
Insc A G 7: 114,829,067 T92A probably damaging Het
Lrrn1 T A 6: 107,567,354 C38S probably damaging Het
Mycbpap T C 11: 94,505,693 E107G probably damaging Het
Neb A T 2: 52,177,535 L5848* probably null Het
Nrg3 A T 14: 38,370,993 M545K probably damaging Het
Nudt3 A G 17: 27,583,228 L28P probably damaging Het
Olfr955 T A 9: 39,469,803 M308L probably benign Het
Otop1 A T 5: 38,302,761 Y557F probably damaging Het
Pdgfra G A 5: 75,189,337 probably null Het
Pi4kb A G 3: 94,984,677 M223V probably benign Het
Piezo1 T C 8: 122,482,960 T2335A probably benign Het
Ppp6c A G 2: 39,197,441 V251A probably benign Het
Prkg1 C T 19: 31,764,762 E21K possibly damaging Het
Ptpru T C 4: 131,803,380 E521G probably null Het
Rasl10b G T 11: 83,418,814 R199L probably damaging Het
Rhbdf2 G A 11: 116,605,377 R111C probably damaging Het
Sec23ip G T 7: 128,744,983 probably benign Het
Sptbn5 A T 2: 120,079,792 noncoding transcript Het
Srsf11 C T 3: 158,023,344 probably benign Het
Syne2 T C 12: 76,095,112 S6141P probably benign Het
Szt2 A G 4: 118,373,217 V2653A unknown Het
Tex46 T C 4: 136,610,614 F39S probably damaging Het
Tmem50a AACCA AA 4: 134,898,467 probably benign Het
Tmem62 G T 2: 120,990,393 W180L probably damaging Het
Tnxb G A 17: 34,685,211 A1232T probably benign Het
Tubgcp3 T C 8: 12,624,888 H744R possibly damaging Het
Uggt2 A G 14: 119,077,724 I311T probably damaging Het
Usp8 C T 2: 126,742,277 R469C probably damaging Het
Vmn1r19 T C 6: 57,405,296 L278S probably damaging Het
Vmn2r59 A T 7: 42,046,460 I176N probably benign Het
Vmn2r-ps159 A T 4: 156,334,210 noncoding transcript Het
Wdr93 A G 7: 79,771,018 T376A probably benign Het
Zfp575 G A 7: 24,585,652 A188V possibly damaging Het
Other mutations in Ccdc157
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Ccdc157 APN 11 4148781 missense probably damaging 1.00
IGL02267:Ccdc157 APN 11 4144035 missense probably benign 0.00
IGL03182:Ccdc157 APN 11 4151832 missense probably damaging 1.00
R0282:Ccdc157 UTSW 11 4146708 missense probably damaging 0.98
R0360:Ccdc157 UTSW 11 4146663 missense probably damaging 0.98
R1349:Ccdc157 UTSW 11 4149056 missense probably benign 0.20
R1527:Ccdc157 UTSW 11 4151795 missense probably damaging 1.00
R1691:Ccdc157 UTSW 11 4149030 missense probably benign 0.07
R1932:Ccdc157 UTSW 11 4146549 missense probably damaging 1.00
R2132:Ccdc157 UTSW 11 4150004 missense probably damaging 1.00
R4361:Ccdc157 UTSW 11 4146550 missense probably damaging 0.99
R4754:Ccdc157 UTSW 11 4148994 missense possibly damaging 0.46
R4786:Ccdc157 UTSW 11 4151861 missense probably damaging 1.00
R5314:Ccdc157 UTSW 11 4150078 nonsense probably null
R5564:Ccdc157 UTSW 11 4148765 missense probably damaging 1.00
R5898:Ccdc157 UTSW 11 4144538 missense probably benign 0.23
R6193:Ccdc157 UTSW 11 4151912 missense probably damaging 1.00
R6936:Ccdc157 UTSW 11 4144030 missense probably benign
R7057:Ccdc157 UTSW 11 4144586 missense probably benign 0.33
R7113:Ccdc157 UTSW 11 4148889 missense possibly damaging 0.94
R7136:Ccdc157 UTSW 11 4148592 missense possibly damaging 0.94
T0975:Ccdc157 UTSW 11 4146246 missense probably damaging 0.99
Z1177:Ccdc157 UTSW 11 4146547 nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCTGTCAATGACCAGCTCC -3'
(R):5'- CAAGTTCTAAAAGGCTGATCACTC -3'

Sequencing Primer
(F):5'- CAACTGTGTGAACTCAGGGTCAC -3'
(R):5'- CTGATCACTCAGGGTTTCTCC -3'
Posted On2016-11-08