Incidental Mutation 'R5312:Ccdc173'
ID405625
Institutional Source Beutler Lab
Gene Symbol Ccdc173
Ensembl Gene ENSMUSG00000070883
Gene Namecoiled-coil domain containing 173
Synonyms4930525K21Rik, 4930578N16Rik
MMRRC Submission 042895-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #R5312 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location69758033-69789575 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69787258 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 60 (T60A)
Ref Sequence ENSEMBL: ENSMUSP00000092548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028494] [ENSMUST00000094942] [ENSMUST00000112266] [ENSMUST00000151298] [ENSMUST00000180290]
Predicted Effect probably benign
Transcript: ENSMUST00000028494
SMART Domains Protein: ENSMUSP00000028494
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 239 1.2e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000094942
AA Change: T60A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
AA Change: T60A

DomainStartEndE-ValueType
coiled coil region 47 131 N/A INTRINSIC
Pfam:TPH 142 475 8.9e-22 PFAM
low complexity region 494 508 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112266
SMART Domains Protein: ENSMUSP00000107885
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 239 9.3e-99 PFAM
Pfam:HAD_2 5 128 8.9e-7 PFAM
Pfam:HAD 5 187 3.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131100
Predicted Effect probably benign
Transcript: ENSMUST00000151298
SMART Domains Protein: ENSMUSP00000118021
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 51 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180290
SMART Domains Protein: ENSMUSP00000136471
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 239 9.3e-99 PFAM
Pfam:HAD_2 5 128 8.9e-7 PFAM
Pfam:HAD 5 187 3.2e-15 PFAM
Meta Mutation Damage Score 0.0719 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T C 7: 118,813,576 I629T probably damaging Het
Abca15 T C 7: 120,345,369 V409A probably damaging Het
Abtb1 A G 6: 88,838,258 F297L probably damaging Het
Adam22 C A 5: 8,090,182 G202W probably damaging Het
Adgrg3 G A 8: 95,039,864 V388I probably benign Het
Adnp T C 2: 168,184,188 T396A probably benign Het
Ank2 T C 3: 126,959,768 Q288R probably damaging Het
Bdp1 T C 13: 100,097,601 probably null Het
Cdc45 C T 16: 18,795,897 R205H probably damaging Het
Cntnap5c A T 17: 58,359,254 E1093V probably benign Het
Dmrta1 A C 4: 89,692,047 N415H probably damaging Het
Dnaaf5 T A 5: 139,152,862 V266E probably damaging Het
Dot1l A G 10: 80,784,637 Q511R possibly damaging Het
Ehmt1 A G 2: 24,884,195 V201A probably damaging Het
Fancg A G 4: 43,003,019 F613L probably benign Het
Fbxo10 A T 4: 45,042,036 I731N possibly damaging Het
Fchsd1 C T 18: 37,959,873 probably benign Het
Gm5155 T G 7: 17,909,142 H492Q probably damaging Het
Gm6614 A T 6: 141,972,332 F606Y probably benign Het
Ighv1-74 A G 12: 115,802,881 S39P probably damaging Het
Kbtbd11 A G 8: 15,028,589 D396G possibly damaging Het
Klc1 A G 12: 111,795,621 K575R possibly damaging Het
Lman1l A T 9: 57,611,077 L343Q probably damaging Het
Mki67 A T 7: 135,700,830 V825E probably damaging Het
Mus81 T C 19: 5,483,494 K489R possibly damaging Het
Myog A G 1: 134,290,326 K91E probably damaging Het
Nfil3 A T 13: 52,967,620 V416E probably damaging Het
Nup160 G T 2: 90,732,832 E1314* probably null Het
Nwd2 C T 5: 63,806,072 Q1000* probably null Het
Olfr1277 T G 2: 111,270,310 D19A probably benign Het
Olfr1284 T C 2: 111,379,834 V278A possibly damaging Het
Olfr790 T A 10: 129,501,514 V210E probably damaging Het
Olfr792 A C 10: 129,541,265 M243L probably benign Het
Ppp4r4 T A 12: 103,606,888 probably null Het
Pramef25 A T 4: 143,949,095 I387N possibly damaging Het
Psg27 C A 7: 18,557,033 R415L probably benign Het
Ptprr T A 10: 116,188,419 S212T probably benign Het
Ramp3 T C 11: 6,674,888 F61L probably damaging Het
Rap1gds1 A G 3: 138,958,628 L322P probably damaging Het
Rnf5 A G 17: 34,601,588 F175S probably benign Het
Sema4a G A 3: 88,437,036 S636F probably damaging Het
Sfrp2 A G 3: 83,769,401 D193G probably damaging Het
Slc26a5 T C 5: 21,847,260 S24G probably damaging Het
Spg21 A G 9: 65,468,802 I31V probably benign Het
Tmem45a2 T C 16: 57,039,007 D287G possibly damaging Het
Utrn A T 10: 12,727,769 D627E probably damaging Het
Vmn2r103 A T 17: 19,793,034 N139I probably benign Het
Washc5 A T 15: 59,345,528 probably null Het
Zfp667 T C 7: 6,305,467 I378T probably benign Het
Zfp949 A C 9: 88,567,183 T14P possibly damaging Het
Other mutations in Ccdc173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Ccdc173 APN 2 69771984 missense probably benign
IGL01768:Ccdc173 APN 2 69782127 splice site probably benign
IGL01801:Ccdc173 APN 2 69776279 splice site probably benign
R0553:Ccdc173 UTSW 2 69789441 missense probably damaging 1.00
R1226:Ccdc173 UTSW 2 69787209 missense possibly damaging 0.63
R1867:Ccdc173 UTSW 2 69781837 splice site probably null
R4821:Ccdc173 UTSW 2 69782108 missense possibly damaging 0.76
R5309:Ccdc173 UTSW 2 69787258 missense possibly damaging 0.92
R5916:Ccdc173 UTSW 2 69789462 start codon destroyed probably null 0.95
R6072:Ccdc173 UTSW 2 69772058 missense probably benign 0.31
R6232:Ccdc173 UTSW 2 69772054 missense possibly damaging 0.64
R6236:Ccdc173 UTSW 2 69758041 utr 3 prime probably null
R6909:Ccdc173 UTSW 2 69781848 intron probably null
R7497:Ccdc173 UTSW 2 69758448 missense probably benign 0.04
R7502:Ccdc173 UTSW 2 69776144 missense probably benign
R7786:Ccdc173 UTSW 2 69781748 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCAGGTATAAGGCACTACTCAG -3'
(R):5'- GCCAATCTTAAGTTACACATTTGAGGC -3'

Sequencing Primer
(F):5'- GCACTACTCAGAAGCAGCAGTTATTG -3'
(R):5'- AAGTCAGGTGAACTCTTCCTG -3'
Posted On2016-07-22