Incidental Mutation 'IGL03377:Ccdc171'
ID 420542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc171
Ensembl Gene ENSMUSG00000052407
Gene Name coiled-coil domain containing 171
Synonyms A330015D16Rik, 4930418J05Rik, 4930473A06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL03377
Quality Score
Status
Chromosome 4
Chromosomal Location 83443782-83782907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83581754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 628 (Y628H)
Ref Sequence ENSEMBL: ENSMUSP00000056520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053414] [ENSMUST00000125077] [ENSMUST00000231339]
AlphaFold E9Q1U1
Predicted Effect probably damaging
Transcript: ENSMUST00000053414
AA Change: Y628H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: Y628H

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 possibly damaging
Transcript: ENSMUST00000231339
AA Change: Y636H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,096,256 (GRCm39) I489L probably benign Het
Acox3 T C 5: 35,751,676 (GRCm39) L237P probably damaging Het
Ahi1 T G 10: 20,893,903 (GRCm39) I878S possibly damaging Het
Alox15 T A 11: 70,240,488 (GRCm39) Y231F probably damaging Het
Asxl1 A T 2: 153,238,700 (GRCm39) K342M probably damaging Het
Atl2 T C 17: 80,172,519 (GRCm39) I150M probably damaging Het
Bag6 T C 17: 35,363,958 (GRCm39) Y822H probably damaging Het
Ceacam5 T A 7: 17,449,056 (GRCm39) Y141N probably benign Het
Ces1a A G 8: 93,766,116 (GRCm39) V166A probably damaging Het
Chrdl2 G A 7: 99,671,259 (GRCm39) A126T probably benign Het
Cyp2d26 T C 15: 82,674,755 (GRCm39) E409G possibly damaging Het
Dicer1 T C 12: 104,678,456 (GRCm39) I621V probably damaging Het
Enpp1 T A 10: 24,536,181 (GRCm39) probably null Het
Epha2 T A 4: 141,049,723 (GRCm39) S776R probably benign Het
Fam107b A T 2: 3,779,481 (GRCm39) E52V probably damaging Het
Fam169a A G 13: 97,228,381 (GRCm39) N18S probably benign Het
Fbxw21 A T 9: 108,968,597 (GRCm39) F460I probably benign Het
Fgfr2 A T 7: 129,800,247 (GRCm39) I329N probably damaging Het
Fndc7 T C 3: 108,783,848 (GRCm39) S254G probably benign Het
Glis1 T G 4: 107,489,478 (GRCm39) H688Q probably damaging Het
Grip1 A G 10: 119,890,937 (GRCm39) E898G probably damaging Het
Gtf2a1l T A 17: 89,019,021 (GRCm39) D368E probably benign Het
Gucy1a1 T A 3: 82,013,322 (GRCm39) H440L probably damaging Het
H2-M10.5 A T 17: 37,084,377 (GRCm39) D113V probably benign Het
Hook2 G T 8: 85,727,964 (GRCm39) E554* probably null Het
Itpr2 A C 6: 146,231,213 (GRCm39) V1182G probably damaging Het
Itpr2 T A 6: 146,231,256 (GRCm39) T1135S probably benign Het
Kdm4c T C 4: 74,189,492 (GRCm39) I69T possibly damaging Het
Klhl31 A T 9: 77,558,345 (GRCm39) K354* probably null Het
Krt222 T A 11: 99,127,339 (GRCm39) K159* probably null Het
Loxhd1 A G 18: 77,529,369 (GRCm39) E2004G possibly damaging Het
Man2a2 A T 7: 80,008,800 (GRCm39) probably null Het
Med24 A G 11: 98,595,962 (GRCm39) F963L possibly damaging Het
Mphosph8 A G 14: 56,930,943 (GRCm39) E744G probably damaging Het
Mypn A G 10: 63,028,644 (GRCm39) S140P probably benign Het
Npc1 A G 18: 12,344,878 (GRCm39) F331L probably benign Het
Obscn C A 11: 58,890,699 (GRCm39) G1798W probably damaging Het
Or5d18 A T 2: 87,864,589 (GRCm39) V298D probably damaging Het
Patj C T 4: 98,353,341 (GRCm39) P110L probably damaging Het
Pkhd1l1 T G 15: 44,347,747 (GRCm39) probably null Het
Prdm5 A G 6: 65,836,457 (GRCm39) H256R possibly damaging Het
Ralgps1 A G 2: 33,062,473 (GRCm39) Y267H probably damaging Het
Rfpl4 T G 7: 5,113,464 (GRCm39) Y239S probably damaging Het
Rnpepl1 A T 1: 92,846,953 (GRCm39) M592L probably benign Het
Serpinc1 A T 1: 160,821,012 (GRCm39) H32L probably damaging Het
Skint5 T A 4: 113,620,735 (GRCm39) T660S unknown Het
Slc26a2 T C 18: 61,331,658 (GRCm39) N591S probably damaging Het
Slc9b2 C T 3: 135,042,119 (GRCm39) A466V probably damaging Het
Slco1a5 T A 6: 142,180,492 (GRCm39) T637S probably benign Het
Snx25 A G 8: 46,533,338 (GRCm39) probably benign Het
Szt2 T C 4: 118,259,594 (GRCm39) probably benign Het
Vmn1r183 A G 7: 23,754,817 (GRCm39) M207V possibly damaging Het
Wdcp T G 12: 4,900,691 (GRCm39) Y182* probably null Het
Zc3h13 A G 14: 75,531,416 (GRCm39) T105A possibly damaging Het
Zfp933 T C 4: 147,913,168 (GRCm39) K30R possibly damaging Het
Other mutations in Ccdc171
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Ccdc171 APN 4 83,600,561 (GRCm39) nonsense probably null
IGL00707:Ccdc171 APN 4 83,599,392 (GRCm39) missense probably benign 0.11
IGL00907:Ccdc171 APN 4 83,782,486 (GRCm39) missense probably damaging 0.98
IGL01113:Ccdc171 APN 4 83,580,047 (GRCm39) missense probably damaging 1.00
IGL01669:Ccdc171 APN 4 83,599,432 (GRCm39) missense probably damaging 1.00
IGL01696:Ccdc171 APN 4 83,573,815 (GRCm39) missense possibly damaging 0.66
IGL02006:Ccdc171 APN 4 83,713,479 (GRCm39) missense possibly damaging 0.93
IGL02582:Ccdc171 APN 4 83,661,255 (GRCm39) missense probably damaging 1.00
IGL03019:Ccdc171 APN 4 83,713,545 (GRCm39) missense probably damaging 1.00
IGL03144:Ccdc171 APN 4 83,736,327 (GRCm39) missense probably damaging 0.99
IGL03350:Ccdc171 APN 4 83,599,615 (GRCm39) missense possibly damaging 0.67
PIT4131001:Ccdc171 UTSW 4 83,579,946 (GRCm39)
PIT4445001:Ccdc171 UTSW 4 83,579,984 (GRCm39) missense probably damaging 1.00
R0219:Ccdc171 UTSW 4 83,614,678 (GRCm39) splice site probably benign
R0284:Ccdc171 UTSW 4 83,467,975 (GRCm39) missense possibly damaging 0.62
R0355:Ccdc171 UTSW 4 83,553,919 (GRCm39) missense probably damaging 1.00
R1248:Ccdc171 UTSW 4 83,599,481 (GRCm39) missense possibly damaging 0.46
R1278:Ccdc171 UTSW 4 83,580,095 (GRCm39) missense possibly damaging 0.90
R1495:Ccdc171 UTSW 4 83,599,332 (GRCm39) nonsense probably null
R1741:Ccdc171 UTSW 4 83,539,076 (GRCm39) missense probably damaging 0.97
R1742:Ccdc171 UTSW 4 83,599,521 (GRCm39) missense probably damaging 0.99
R1789:Ccdc171 UTSW 4 83,473,045 (GRCm39) missense probably damaging 0.99
R1801:Ccdc171 UTSW 4 83,465,132 (GRCm39) missense probably benign 0.41
R4204:Ccdc171 UTSW 4 83,599,392 (GRCm39) missense probably benign 0.11
R4245:Ccdc171 UTSW 4 83,473,045 (GRCm39) missense probably damaging 0.99
R4502:Ccdc171 UTSW 4 83,782,560 (GRCm39) missense probably damaging 1.00
R4503:Ccdc171 UTSW 4 83,782,560 (GRCm39) missense probably damaging 1.00
R4533:Ccdc171 UTSW 4 83,575,579 (GRCm39) missense possibly damaging 0.66
R4589:Ccdc171 UTSW 4 83,467,855 (GRCm39) missense probably benign 0.11
R4782:Ccdc171 UTSW 4 83,599,253 (GRCm39) missense probably damaging 0.99
R4815:Ccdc171 UTSW 4 83,713,458 (GRCm39) missense probably damaging 1.00
R4868:Ccdc171 UTSW 4 83,612,569 (GRCm39) missense probably damaging 1.00
R4926:Ccdc171 UTSW 4 83,476,829 (GRCm39) intron probably benign
R4937:Ccdc171 UTSW 4 83,467,876 (GRCm39) missense probably damaging 1.00
R5120:Ccdc171 UTSW 4 83,476,763 (GRCm39) intron probably benign
R5185:Ccdc171 UTSW 4 83,581,892 (GRCm39) missense possibly damaging 0.84
R5210:Ccdc171 UTSW 4 83,473,093 (GRCm39) missense probably damaging 1.00
R5243:Ccdc171 UTSW 4 83,522,344 (GRCm39) missense probably damaging 1.00
R5484:Ccdc171 UTSW 4 83,612,199 (GRCm39) missense probably benign 0.00
R5574:Ccdc171 UTSW 4 83,611,990 (GRCm39) missense probably damaging 1.00
R6053:Ccdc171 UTSW 4 83,713,456 (GRCm39) missense probably damaging 1.00
R6135:Ccdc171 UTSW 4 83,473,087 (GRCm39) missense probably benign 0.12
R6140:Ccdc171 UTSW 4 83,614,554 (GRCm39) nonsense probably null
R6339:Ccdc171 UTSW 4 83,661,234 (GRCm39) missense probably damaging 1.00
R6452:Ccdc171 UTSW 4 83,782,527 (GRCm39) missense probably damaging 1.00
R7111:Ccdc171 UTSW 4 83,611,998 (GRCm39) missense probably benign 0.00
R7352:Ccdc171 UTSW 4 83,736,260 (GRCm39) missense possibly damaging 0.82
R7390:Ccdc171 UTSW 4 83,736,304 (GRCm39) missense probably damaging 1.00
R7626:Ccdc171 UTSW 4 83,499,012 (GRCm39) nonsense probably null
R7686:Ccdc171 UTSW 4 83,575,556 (GRCm39) missense unknown
R7705:Ccdc171 UTSW 4 83,476,193 (GRCm39) missense possibly damaging 0.87
R7934:Ccdc171 UTSW 4 83,614,492 (GRCm39) nonsense probably null
R8058:Ccdc171 UTSW 4 83,499,003 (GRCm39) missense probably damaging 0.99
R8114:Ccdc171 UTSW 4 83,614,537 (GRCm39) missense probably damaging 1.00
R8253:Ccdc171 UTSW 4 83,661,207 (GRCm39) missense probably damaging 0.99
R8257:Ccdc171 UTSW 4 83,614,606 (GRCm39) missense probably damaging 1.00
R8378:Ccdc171 UTSW 4 83,782,490 (GRCm39) missense possibly damaging 0.67
R8501:Ccdc171 UTSW 4 83,581,895 (GRCm39) nonsense probably null
R8517:Ccdc171 UTSW 4 83,661,298 (GRCm39) missense probably damaging 1.00
R8697:Ccdc171 UTSW 4 83,600,577 (GRCm39) missense probably damaging 1.00
R9149:Ccdc171 UTSW 4 83,612,512 (GRCm39) missense probably damaging 1.00
R9430:Ccdc171 UTSW 4 83,522,362 (GRCm39) missense probably damaging 1.00
R9642:Ccdc171 UTSW 4 83,599,525 (GRCm39) missense probably benign 0.12
R9686:Ccdc171 UTSW 4 83,467,919 (GRCm39) missense probably damaging 1.00
U24488:Ccdc171 UTSW 4 83,579,954 (GRCm39) missense probably damaging 1.00
Z1176:Ccdc171 UTSW 4 83,713,467 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02