Incidental Mutation 'IGL03144:Ccdc171'
ID410832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc171
Ensembl Gene ENSMUSG00000052407
Gene Namecoiled-coil domain containing 171
Synonyms4930473A06Rik, 4930418J05Rik, A330015D16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL03144
Quality Score
Status
Chromosome4
Chromosomal Location83525545-83864670 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 83818090 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 1233 (I1233L)
Ref Sequence ENSEMBL: ENSMUSP00000056520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053414] [ENSMUST00000125077] [ENSMUST00000231339]
Predicted Effect probably damaging
Transcript: ENSMUST00000053414
AA Change: I1233L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: I1233L

DomainStartEndE-ValueType
coiled coil region 48 298 N/A INTRINSIC
coiled coil region 325 393 N/A INTRINSIC
coiled coil region 453 527 N/A INTRINSIC
coiled coil region 599 628 N/A INTRINSIC
coiled coil region 653 712 N/A INTRINSIC
low complexity region 728 743 N/A INTRINSIC
low complexity region 783 797 N/A INTRINSIC
coiled coil region 981 1145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125077
SMART Domains Protein: ENSMUSP00000116486
Gene: ENSMUSG00000052407

DomainStartEndE-ValueType
coiled coil region 48 298 N/A INTRINSIC
coiled coil region 325 393 N/A INTRINSIC
coiled coil region 453 535 N/A INTRINSIC
coiled coil region 607 636 N/A INTRINSIC
coiled coil region 661 720 N/A INTRINSIC
low complexity region 736 751 N/A INTRINSIC
low complexity region 791 805 N/A INTRINSIC
coiled coil region 989 1153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231339
AA Change: I1241L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C A 17: 24,381,964 Q451K probably benign Het
Acly A T 11: 100,515,083 D294E possibly damaging Het
Arid3a C T 10: 79,946,482 probably benign Het
Ascc3 T C 10: 50,767,443 V1830A probably benign Het
Atp6v1b1 T C 6: 83,758,351 V467A probably benign Het
Ccdc74a C A 16: 17,648,866 Q146K possibly damaging Het
Cdh26 A G 2: 178,468,174 D420G probably damaging Het
Ceacam20 T C 7: 19,971,519 V145A possibly damaging Het
Cmya5 C A 13: 93,090,868 A2571S probably damaging Het
Cog2 T C 8: 124,541,024 S360P probably damaging Het
Col26a1 G T 5: 136,765,348 T132N probably damaging Het
Col6a2 T A 10: 76,614,425 H224L probably benign Het
Cpm C T 10: 117,683,414 S409L probably benign Het
Dock4 G T 12: 40,692,907 probably benign Het
Dpy19l2 T A 9: 24,646,307 N391Y possibly damaging Het
Exosc9 G A 3: 36,554,135 G126D probably damaging Het
Eya3 T C 4: 132,693,142 S256P probably benign Het
Fat3 T C 9: 16,375,245 D994G probably damaging Het
Fat4 A G 3: 38,956,859 Q2036R possibly damaging Het
Fryl T C 5: 73,101,455 Q662R probably null Het
Gm13271 A G 4: 88,755,399 R178G probably benign Het
Gpr165 T A X: 96,716,954 L279Q probably damaging Het
Htr1b A G 9: 81,631,945 L203P probably damaging Het
Kcnb2 T C 1: 15,709,888 L328P probably damaging Het
Klhl26 C T 8: 70,452,564 R198H probably damaging Het
Nhsl2 A G X: 102,079,509 R973G possibly damaging Het
Nmi A T 2: 51,952,534 F182Y probably damaging Het
Nop2 T A 6: 125,137,512 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr50 A G 2: 36,794,081 T282A probably benign Het
Ooep G T 9: 78,378,007 A109E possibly damaging Het
Pan3 T C 5: 147,450,781 probably benign Het
Pcdhb6 A G 18: 37,334,406 N127D probably damaging Het
Rabgap1 G A 2: 37,540,532 R695H probably damaging Het
Rxrg G A 1: 167,598,758 G3R possibly damaging Het
Slc17a3 T C 13: 23,846,440 M178T probably benign Het
Slc39a8 A G 3: 135,884,210 E287G probably benign Het
Slc44a5 G T 3: 154,243,540 D217Y possibly damaging Het
Slc4a10 G T 2: 62,250,466 V346L probably benign Het
Slc9a4 T C 1: 40,612,202 Y547H probably damaging Het
St6galnac3 A C 3: 153,205,527 Y266D probably damaging Het
Stard6 A T 18: 70,476,111 Y3F possibly damaging Het
Stk25 C A 1: 93,629,136 L53F probably damaging Het
Tep1 A T 14: 50,844,017 probably benign Het
Tmem151a T A 19: 5,085,372 M1L probably benign Het
Trim10 T C 17: 36,876,848 S319P probably damaging Het
Trmt44 G T 5: 35,564,422 P466T probably benign Het
Unc79 T C 12: 103,042,142 I256T probably damaging Het
Vmn2r125 G T 4: 156,350,019 L33F possibly damaging Het
Other mutations in Ccdc171
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Ccdc171 APN 4 83682324 nonsense probably null
IGL00707:Ccdc171 APN 4 83681155 missense probably benign 0.11
IGL00907:Ccdc171 APN 4 83864249 missense probably damaging 0.98
IGL01113:Ccdc171 APN 4 83661810 missense probably damaging 1.00
IGL01669:Ccdc171 APN 4 83681195 missense probably damaging 1.00
IGL01696:Ccdc171 APN 4 83655578 missense possibly damaging 0.66
IGL02006:Ccdc171 APN 4 83795242 missense possibly damaging 0.93
IGL02582:Ccdc171 APN 4 83743018 missense probably damaging 1.00
IGL03019:Ccdc171 APN 4 83795308 missense probably damaging 1.00
IGL03350:Ccdc171 APN 4 83681378 missense possibly damaging 0.67
IGL03377:Ccdc171 APN 4 83663517 missense probably damaging 1.00
PIT4131001:Ccdc171 UTSW 4 83661709
PIT4445001:Ccdc171 UTSW 4 83661747 missense probably damaging 1.00
R0219:Ccdc171 UTSW 4 83696441 splice site probably benign
R0284:Ccdc171 UTSW 4 83549738 missense possibly damaging 0.62
R0355:Ccdc171 UTSW 4 83635682 missense probably damaging 1.00
R1248:Ccdc171 UTSW 4 83681244 missense possibly damaging 0.46
R1278:Ccdc171 UTSW 4 83661858 missense possibly damaging 0.90
R1495:Ccdc171 UTSW 4 83681095 nonsense probably null
R1741:Ccdc171 UTSW 4 83620839 missense probably damaging 0.97
R1742:Ccdc171 UTSW 4 83681284 missense probably damaging 0.99
R1789:Ccdc171 UTSW 4 83554808 missense probably damaging 0.99
R1801:Ccdc171 UTSW 4 83546895 missense probably benign 0.41
R4204:Ccdc171 UTSW 4 83681155 missense probably benign 0.11
R4245:Ccdc171 UTSW 4 83554808 missense probably damaging 0.99
R4502:Ccdc171 UTSW 4 83864323 missense probably damaging 1.00
R4503:Ccdc171 UTSW 4 83864323 missense probably damaging 1.00
R4533:Ccdc171 UTSW 4 83657342 missense possibly damaging 0.66
R4589:Ccdc171 UTSW 4 83549618 missense probably benign 0.11
R4782:Ccdc171 UTSW 4 83681016 missense probably damaging 0.99
R4815:Ccdc171 UTSW 4 83795221 missense probably damaging 1.00
R4868:Ccdc171 UTSW 4 83694332 missense probably damaging 1.00
R4926:Ccdc171 UTSW 4 83558592 intron probably benign
R4937:Ccdc171 UTSW 4 83549639 missense probably damaging 1.00
R5120:Ccdc171 UTSW 4 83558526 intron probably benign
R5185:Ccdc171 UTSW 4 83663655 missense possibly damaging 0.84
R5210:Ccdc171 UTSW 4 83554856 missense probably damaging 1.00
R5243:Ccdc171 UTSW 4 83604107 missense probably damaging 1.00
R5484:Ccdc171 UTSW 4 83693962 missense probably benign 0.00
R5574:Ccdc171 UTSW 4 83693753 missense probably damaging 1.00
R6053:Ccdc171 UTSW 4 83795219 missense probably damaging 1.00
R6135:Ccdc171 UTSW 4 83554850 missense probably benign 0.12
R6140:Ccdc171 UTSW 4 83696317 nonsense probably null
R6339:Ccdc171 UTSW 4 83742997 missense probably damaging 1.00
R6452:Ccdc171 UTSW 4 83864290 missense probably damaging 1.00
R7111:Ccdc171 UTSW 4 83693761 missense probably benign 0.00
U24488:Ccdc171 UTSW 4 83661717 missense probably damaging 1.00
Posted On2016-08-02