Incidental Mutation 'R7686:Ccdc171'
ID 593081
Institutional Source Beutler Lab
Gene Symbol Ccdc171
Ensembl Gene ENSMUSG00000052407
Gene Name coiled-coil domain containing 171
Synonyms A330015D16Rik, 4930418J05Rik, 4930473A06Rik
MMRRC Submission 045751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R7686 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 83443782-83782907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83575556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 480 (N480I)
Ref Sequence ENSEMBL: ENSMUSP00000155912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053414] [ENSMUST00000125077] [ENSMUST00000231339]
AlphaFold E9Q1U1
Predicted Effect probably benign
Transcript: ENSMUST00000053414
SMART Domains Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407

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 unknown
Transcript: ENSMUST00000231339
AA Change: N480I
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A T 1: 66,887,557 (GRCm39) probably null Het
Adgrg5 A T 8: 95,664,430 (GRCm39) I347F Het
Agmo T C 12: 37,469,973 (GRCm39) V431A probably benign Het
Arl14epl A G 18: 47,065,523 (GRCm39) D96G probably damaging Het
Asxl1 C T 2: 153,233,534 (GRCm39) S113F probably damaging Het
Axdnd1 A T 1: 156,223,034 (GRCm39) C81* probably null Het
Bloc1s3 C T 7: 19,241,531 (GRCm39) probably benign Het
Bmper C G 9: 23,310,840 (GRCm39) L425V probably benign Het
Bok A T 1: 93,622,822 (GRCm39) T194S probably benign Het
Bpifa5 A T 2: 154,007,432 (GRCm39) I125L probably benign Het
Brcc3dc T C 10: 108,535,301 (GRCm39) E218G probably damaging Het
Brd10 A T 19: 29,694,870 (GRCm39) I1541N probably benign Het
Brpf3 T C 17: 29,025,908 (GRCm39) I327T probably damaging Het
Camk1 T A 6: 113,313,158 (GRCm39) N297Y probably damaging Het
Catsper2 C T 2: 121,227,937 (GRCm39) probably null Het
Cd83 A G 13: 43,938,848 (GRCm39) M22V probably benign Het
Col1a2 A G 6: 4,518,964 (GRCm39) D243G unknown Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Ctla4 A T 1: 60,951,752 (GRCm39) T94S probably benign Het
Cyp2b19 T C 7: 26,461,768 (GRCm39) F196S probably damaging Het
Dhx32 A T 7: 133,361,430 (GRCm39) M1K probably null Het
Epha3 T A 16: 63,593,651 (GRCm39) I146F probably damaging Het
Erbb2 T A 11: 98,326,399 (GRCm39) S1008T probably benign Het
Esp34 A G 17: 38,870,534 (GRCm39) R143G possibly damaging Het
Fam135b T C 15: 71,335,233 (GRCm39) K654E possibly damaging Het
Fgr T C 4: 132,725,324 (GRCm39) M343T probably benign Het
Fibcd1 T G 2: 31,723,880 (GRCm39) D253A probably damaging Het
Foxk1 C T 5: 142,387,625 (GRCm39) S116L probably damaging Het
Gimap8 G A 6: 48,633,006 (GRCm39) G275E probably damaging Het
Glp1r T C 17: 31,144,633 (GRCm39) Y269H probably damaging Het
H2ac20 T C 3: 96,127,886 (GRCm39) E92G probably damaging Het
Lbr A G 1: 181,645,086 (GRCm39) F522S probably damaging Het
Lca5 T C 9: 83,277,292 (GRCm39) N684S probably benign Het
Leng8 C A 7: 4,146,504 (GRCm39) S372* probably null Het
Lrp2 A G 2: 69,319,581 (GRCm39) Y1981H probably damaging Het
Lrrc37a T G 11: 103,389,062 (GRCm39) Q2121P unknown Het
Lrrn2 A G 1: 132,866,332 (GRCm39) T466A probably benign Het
Map3k19 A T 1: 127,749,985 (GRCm39) L1122* probably null Het
Mfsd6 T C 1: 52,701,554 (GRCm39) E632G probably benign Het
Mfsd6l C T 11: 68,448,052 (GRCm39) A301V probably benign Het
Mro A T 18: 74,010,510 (GRCm39) M197L probably benign Het
Ncam2 A T 16: 81,418,342 (GRCm39) E799V probably damaging Het
Nek9 A T 12: 85,350,433 (GRCm39) D880E probably benign Het
Ntng1 T A 3: 109,842,330 (GRCm39) I148L possibly damaging Het
Or1ad6 A G 11: 50,860,582 (GRCm39) T246A possibly damaging Het
Or5ac23 T A 16: 59,149,379 (GRCm39) R164S probably damaging Het
P2ry13 C T 3: 59,117,439 (GRCm39) G113D probably damaging Het
Pnpt1 A T 11: 29,107,070 (GRCm39) T687S probably damaging Het
Pou2af1 T C 9: 51,149,486 (GRCm39) Y193H probably damaging Het
Ppp1r14c T A 10: 3,413,396 (GRCm39) I143N probably damaging Het
Ppp1r16a A T 15: 76,578,783 (GRCm39) S496C probably benign Het
Prdm12 G A 2: 31,530,229 (GRCm39) R40Q probably damaging Het
Rabepk C T 2: 34,669,308 (GRCm39) G362S probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf26rt A T 6: 76,474,013 (GRCm39) L201H probably damaging Het
Robo2 C A 16: 73,755,293 (GRCm39) V743F probably damaging Het
Scart1 T A 7: 139,802,116 (GRCm39) C148* probably null Het
Scart2 A G 7: 139,828,965 (GRCm39) N208S probably benign Het
Smg1 A T 7: 117,767,081 (GRCm39) Y1804N unknown Het
Ssh2 A G 11: 77,316,150 (GRCm39) E257G possibly damaging Het
Stoml3 T C 3: 53,410,589 (GRCm39) I101T probably damaging Het
Stxbp5 T C 10: 9,645,154 (GRCm39) D950G probably damaging Het
Syt10 T C 15: 89,698,360 (GRCm39) D328G probably damaging Het
Taf3 T C 2: 9,956,299 (GRCm39) K623E probably damaging Het
Tas2r134 T A 2: 51,518,255 (GRCm39) S245T possibly damaging Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Tjp3 C T 10: 81,113,885 (GRCm39) V458I probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Tram1l1 T C 3: 124,114,959 (GRCm39) F40L probably benign Het
Ttc29 A T 8: 79,119,759 (GRCm39) T464S probably benign Het
Txndc9 A T 1: 38,026,849 (GRCm39) M192K probably benign Het
Urb2 C A 8: 124,771,911 (GRCm39) A1444E probably benign Het
Uty G A Y: 1,158,075 (GRCm39) T657I possibly damaging Het
Vmn1r1 A T 1: 181,985,590 (GRCm39) V25D probably damaging Het
Vmn2r65 A T 7: 84,589,744 (GRCm39) I724N probably damaging Het
Xkr6 C T 14: 63,844,295 (GRCm39) T106M possibly damaging Het
Zc3h18 G A 8: 123,140,615 (GRCm39) R850Q unknown Het
Zfp341 A G 2: 154,466,781 (GRCm39) E50G probably damaging Het
Zfp62 C A 11: 49,107,985 (GRCm39) A692E probably 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
IGL03377:Ccdc171 APN 4 83,581,754 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CATGTGACAGAAACTGCACAGC -3'
(R):5'- AGGCTTCCTTTAACACTTGATCAAC -3'

Sequencing Primer
(F):5'- GCCTTTAACCAGAACAGAAGTG -3'
(R):5'- TTGAAAATGGAAGCTTTATTTTCTGG -3'
Posted On 2019-11-12