Incidental Mutation 'R6053:Ccdc171'
ID 484220
Institutional Source Beutler Lab
Gene Symbol Ccdc171
Ensembl Gene ENSMUSG00000052407
Gene Name coiled-coil domain containing 171
Synonyms A330015D16Rik, 4930418J05Rik, 4930473A06Rik
MMRRC Submission 044221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 83443782-83782907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83713456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1165 (L1165R)
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: L1165R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: L1165R

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 noncoding transcript
Transcript: ENSMUST00000183729
Predicted Effect probably damaging
Transcript: ENSMUST00000231339
AA Change: L1173R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,964,666 (GRCm39) Y2158H probably damaging Het
Acap1 T G 11: 69,777,896 (GRCm39) probably null Het
Adamts4 T A 1: 171,080,284 (GRCm39) I279N possibly damaging Het
Akap3 A G 6: 126,843,496 (GRCm39) E705G probably damaging Het
Aoc1l3 A G 6: 48,965,422 (GRCm39) T477A probably benign Het
Arap3 C A 18: 38,123,824 (GRCm39) L398F probably damaging Het
Catsperg1 A T 7: 28,910,239 (GRCm39) L34* probably null Het
Ccdc3 G A 2: 5,233,838 (GRCm39) V221I probably benign Het
Cdc42ep4 T A 11: 113,619,812 (GRCm39) H193L probably damaging Het
Clcn1 G A 6: 42,277,208 (GRCm39) W361* probably null Het
Cntn2 T C 1: 132,446,090 (GRCm39) N832S probably benign Het
Col5a1 A T 2: 27,904,389 (GRCm39) probably benign Het
Cplane1 A G 15: 8,217,945 (GRCm39) D785G probably benign Het
Cspg4b C A 13: 113,457,260 (GRCm39) P1102Q possibly damaging Het
Ctc1 T A 11: 68,918,727 (GRCm39) M550K probably benign Het
Dennd5a T C 7: 109,532,952 (GRCm39) R273G probably damaging Het
Dnajb7 T C 15: 81,291,500 (GRCm39) E279G probably benign Het
Dop1a G T 9: 86,397,347 (GRCm39) G882W possibly damaging Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Ect2l A T 10: 18,017,592 (GRCm39) L629Q probably damaging Het
Enpp1 T C 10: 24,533,024 (GRCm39) D497G possibly damaging Het
Ep400 T C 5: 110,903,661 (GRCm39) M313V probably benign Het
Epn2 T C 11: 61,437,323 (GRCm39) Y83C probably damaging Het
Ercc3 T G 18: 32,379,807 (GRCm39) V338G probably damaging Het
Fkbp5 T C 17: 28,647,440 (GRCm39) I132V probably benign Het
Fn1 A T 1: 71,638,449 (GRCm39) Y1846N probably damaging Het
Foxg1 T C 12: 49,432,161 (GRCm39) L298P possibly damaging Het
Foxo3 G A 10: 42,073,210 (GRCm39) P436S probably benign Het
Gbx2 T C 1: 89,858,159 (GRCm39) T107A probably benign Het
Gli1 G T 10: 127,170,184 (GRCm39) H324N probably damaging Het
Gnas T A 2: 174,141,645 (GRCm39) S605T possibly damaging Het
Ica1 C T 6: 8,630,783 (GRCm39) A431T probably benign Het
Il10ra C T 9: 45,167,601 (GRCm39) D319N probably damaging Het
Jmjd4 T A 11: 59,344,870 (GRCm39) H274Q probably damaging Het
Krt28 C A 11: 99,262,027 (GRCm39) L294F probably benign Het
Ltbp3 C A 19: 5,802,122 (GRCm39) T766K probably damaging Het
Man2b2 C A 5: 36,970,382 (GRCm39) M841I probably benign Het
Mmp14 T A 14: 54,673,347 (GRCm39) M85K probably benign Het
Mmp1b T A 9: 7,385,031 (GRCm39) D206V probably benign Het
Muc5b T C 7: 141,418,445 (GRCm39) F3797S probably benign Het
Mug1 A G 6: 121,842,697 (GRCm39) D561G probably benign Het
Myo18a T A 11: 77,709,002 (GRCm39) H471Q probably damaging Het
Nfkb2 A G 19: 46,300,251 (GRCm39) E873G probably damaging Het
Ngfr G A 11: 95,461,832 (GRCm39) H361Y possibly damaging Het
Nnt T C 13: 119,494,045 (GRCm39) T679A possibly damaging Het
Notch1 A T 2: 26,362,924 (GRCm39) N947K probably benign Het
Nrg4 A T 9: 55,143,774 (GRCm39) V94D probably benign Het
Nsd1 G T 13: 55,441,422 (GRCm39) C1631F probably damaging Het
Nutm1 T C 2: 112,079,435 (GRCm39) T827A probably benign Het
Or2t47 T A 11: 58,442,892 (GRCm39) M58L possibly damaging Het
Or4c114 T C 2: 88,904,898 (GRCm39) D179G probably damaging Het
Or5h19 A T 16: 58,856,351 (GRCm39) Y250N probably damaging Het
Or6p1 C A 1: 174,258,135 (GRCm39) S47* probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Orai3 C T 7: 127,373,050 (GRCm39) P184S probably benign Het
Paqr3 A T 5: 97,259,137 (GRCm39) S56T probably benign Het
Pard6b C T 2: 167,940,973 (GRCm39) T320M possibly damaging Het
Pgs1 T C 11: 117,892,535 (GRCm39) S166P probably damaging Het
Plaa T C 4: 94,478,121 (GRCm39) T114A probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plin4 A T 17: 56,415,618 (GRCm39) D73E probably benign Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Rbak A C 5: 143,160,437 (GRCm39) Y205* probably null Het
Rgs12 T C 5: 35,123,296 (GRCm39) F360L probably benign Het
Rgs22 A T 15: 36,100,153 (GRCm39) D187E probably benign Het
Sec24d C T 3: 123,072,871 (GRCm39) Q66* probably null Het
Sh2d5 T A 4: 137,982,873 (GRCm39) M85K probably damaging Het
Sos1 A G 17: 80,722,463 (GRCm39) V861A possibly damaging Het
Stk11ip T A 1: 75,510,899 (GRCm39) probably null Het
Tmem26 G A 10: 68,584,314 (GRCm39) E127K probably benign Het
Tmem41a T G 16: 21,753,739 (GRCm39) T211P possibly damaging Het
Tmem69 T A 4: 116,410,581 (GRCm39) M130L possibly damaging Het
Trak2 C A 1: 58,943,228 (GRCm39) R726L possibly damaging Het
Vmn1r231 A G 17: 21,110,081 (GRCm39) I278T probably damaging Het
Vwf G A 6: 125,577,628 (GRCm39) V490I probably benign Het
Wdr33 C T 18: 32,011,116 (GRCm39) T255I possibly damaging Het
Ylpm1 G T 12: 85,043,277 (GRCm39) W5L possibly damaging Het
Zfp169 A T 13: 48,652,334 (GRCm39) W28R 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
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
Predicted Primers PCR Primer
(F):5'- TCATTTCAAGCAGGAGGATGC -3'
(R):5'- TTCACAATACTCCAAGGCTTCC -3'

Sequencing Primer
(F):5'- CAGGAGGATGCTTTTTCTTCTTAAC -3'
(R):5'- ACAATACTCCAAGGCTTCCATTCTC -3'
Posted On 2017-07-14