Incidental Mutation 'R7608:Cfap61'
ID 588420
Institutional Source Beutler Lab
Gene Symbol Cfap61
Ensembl Gene ENSMUSG00000037143
Gene Name cilia and flagella associated protein 61
Synonyms 4930529M08Rik
MMRRC Submission 045678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7608 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 145776704-146056959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 145805451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 267 (C267Y)
Ref Sequence ENSEMBL: ENSMUSP00000112099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116398] [ENSMUST00000126415] [ENSMUST00000130168] [ENSMUST00000133433] [ENSMUST00000138774] [ENSMUST00000152515]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000116398
AA Change: C267Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143
AA Change: C267Y

DomainStartEndE-ValueType
SCOP:d1b87a_ 183 237 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126415
SMART Domains Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
SCOP:d1b87a_ 183 244 1e-5 SMART
low complexity region 355 368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130168
SMART Domains Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
transmembrane domain 133 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133433
SMART Domains Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
Pfam:DUF4821 15 272 1.1e-96 PFAM
low complexity region 355 368 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
low complexity region 1172 1182 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000138774
AA Change: C183Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143
AA Change: C183Y

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
transmembrane domain 49 71 N/A INTRINSIC
SCOP:d1b87a_ 99 153 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152515
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,347 (GRCm39) F311S probably benign Het
Adamts7 C A 9: 90,055,826 (GRCm39) T193N possibly damaging Het
Akr1b7 A G 6: 34,397,457 (GRCm39) N273S probably damaging Het
Asz1 G A 6: 18,077,252 (GRCm39) T151M probably damaging Het
Atosb A G 4: 43,036,533 (GRCm39) L66P probably damaging Het
Atrnl1 T A 19: 57,703,119 (GRCm39) Y1046N probably damaging Het
Cacna2d1 T C 5: 16,564,022 (GRCm39) S902P probably damaging Het
Casp3 T A 8: 47,087,368 (GRCm39) I105K probably benign Het
Ccdc146 C T 5: 21,506,450 (GRCm39) V664I probably benign Het
Dgkz A T 2: 91,764,399 (GRCm39) probably null Het
Dnah11 G T 12: 118,104,505 (GRCm39) probably null Het
Duox1 C A 2: 122,156,616 (GRCm39) Y514* probably null Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fan1 A T 7: 64,003,979 (GRCm39) probably null Het
Fgfrl1 A T 5: 108,853,211 (GRCm39) K278M probably damaging Het
Fign T C 2: 63,809,063 (GRCm39) I736V possibly damaging Het
Galns A G 8: 123,318,184 (GRCm39) F410S probably benign Het
Hspbp1 C A 7: 4,663,821 (GRCm39) K341N possibly damaging Het
Idh3b A T 2: 130,122,900 (GRCm39) S296R probably damaging Het
Ifi44 A G 3: 151,438,045 (GRCm39) F414S probably damaging Het
Kdm3a T A 6: 71,577,731 (GRCm39) M690L probably benign Het
Ldaf1 A G 7: 119,704,011 (GRCm39) K19E probably damaging Het
Lrrc49 C T 9: 60,510,005 (GRCm39) G488S probably null Het
Mcc T C 18: 44,624,294 (GRCm39) N417S possibly damaging Het
Melk T A 4: 44,325,571 (GRCm39) probably null Het
Mtcl1 T C 17: 66,650,300 (GRCm39) R1722G probably damaging Het
Or4a79 A G 2: 89,551,642 (GRCm39) V271A probably benign Het
Or51f23c-ps1 A G 7: 102,431,132 (GRCm39) I150V probably benign Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or8d2 T A 9: 38,759,806 (GRCm39) V132D possibly damaging Het
Pdzrn3 T C 6: 101,128,713 (GRCm39) E651G probably damaging Het
Pop5 A G 5: 115,375,931 (GRCm39) probably benign Het
Prox1 T A 1: 189,885,642 (GRCm39) M602L probably benign Het
Prpf39 G A 12: 65,100,220 (GRCm39) A298T probably benign Het
Scg2 T C 1: 79,413,898 (GRCm39) E275G probably benign Het
Scn11a A T 9: 119,644,379 (GRCm39) probably null Het
Slc16a4 A T 3: 107,210,443 (GRCm39) Y371F probably damaging Het
Slc4a1ap T A 5: 31,693,533 (GRCm39) M489K possibly damaging Het
Spata13 A G 14: 60,929,956 (GRCm39) N505D possibly damaging Het
Tas2r129 A G 6: 132,928,156 (GRCm39) N31S probably damaging Het
Tnn A T 1: 159,915,984 (GRCm39) Y1508* probably null Het
Trim23 T C 13: 104,328,541 (GRCm39) V354A probably benign Het
Tsc1 A T 2: 28,548,748 (GRCm39) T18S probably benign Het
Txlnb A G 10: 17,691,146 (GRCm39) K232R probably damaging Het
Vmn1r53 C T 6: 90,201,104 (GRCm39) M73I probably benign Het
Vmn1r67 G A 7: 10,181,290 (GRCm39) V185M possibly damaging Het
Vmn2r14 A G 5: 109,369,276 (GRCm39) I99T probably benign Het
Zfp318 T G 17: 46,710,935 (GRCm39) V886G probably damaging Het
Zfp760 A G 17: 21,941,797 (GRCm39) N324S probably benign Het
Zfp819 T C 7: 43,266,357 (GRCm39) V280A probably benign Het
Other mutations in Cfap61
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02838:Cfap61 APN 2 145,789,084 (GRCm39) nonsense probably null
IGL03024:Cfap61 APN 2 145,781,919 (GRCm39) splice site probably benign
1mM(1):Cfap61 UTSW 2 146,042,680 (GRCm39) missense probably damaging 1.00
R0006:Cfap61 UTSW 2 145,919,232 (GRCm39) missense probably benign 0.06
R0396:Cfap61 UTSW 2 145,791,864 (GRCm39) missense possibly damaging 0.88
R0458:Cfap61 UTSW 2 145,850,837 (GRCm39) missense probably benign 0.08
R0477:Cfap61 UTSW 2 145,781,836 (GRCm39) missense probably damaging 1.00
R0513:Cfap61 UTSW 2 145,877,215 (GRCm39) missense possibly damaging 0.93
R1104:Cfap61 UTSW 2 145,792,981 (GRCm39) nonsense probably null
R1413:Cfap61 UTSW 2 145,805,363 (GRCm39) missense probably benign 0.27
R1591:Cfap61 UTSW 2 145,987,378 (GRCm39) missense probably benign 0.17
R1599:Cfap61 UTSW 2 145,854,083 (GRCm39) missense probably benign
R1661:Cfap61 UTSW 2 145,877,239 (GRCm39) splice site probably null
R1665:Cfap61 UTSW 2 145,877,239 (GRCm39) splice site probably null
R1789:Cfap61 UTSW 2 145,781,913 (GRCm39) critical splice donor site probably null
R1800:Cfap61 UTSW 2 145,884,542 (GRCm39) missense probably damaging 1.00
R2050:Cfap61 UTSW 2 145,987,393 (GRCm39) missense probably benign 0.26
R2202:Cfap61 UTSW 2 146,056,600 (GRCm39) missense probably damaging 1.00
R2220:Cfap61 UTSW 2 145,878,736 (GRCm39) critical splice acceptor site probably null
R2444:Cfap61 UTSW 2 145,877,239 (GRCm39) splice site probably null
R3779:Cfap61 UTSW 2 145,792,714 (GRCm39) missense probably damaging 1.00
R4668:Cfap61 UTSW 2 145,985,056 (GRCm39) missense probably damaging 0.99
R4705:Cfap61 UTSW 2 145,877,122 (GRCm39) missense probably damaging 1.00
R4763:Cfap61 UTSW 2 145,859,287 (GRCm39) missense probably benign 0.00
R4816:Cfap61 UTSW 2 145,985,020 (GRCm39) missense probably damaging 1.00
R5067:Cfap61 UTSW 2 145,943,956 (GRCm39) missense probably damaging 0.99
R5120:Cfap61 UTSW 2 145,985,080 (GRCm39) nonsense probably null
R5308:Cfap61 UTSW 2 145,951,908 (GRCm39) missense probably damaging 0.99
R5575:Cfap61 UTSW 2 145,859,313 (GRCm39) missense probably benign 0.31
R5834:Cfap61 UTSW 2 145,971,069 (GRCm39) missense probably benign 0.29
R5959:Cfap61 UTSW 2 145,789,053 (GRCm39) missense probably benign 0.00
R6190:Cfap61 UTSW 2 145,789,053 (GRCm39) missense probably benign 0.00
R6283:Cfap61 UTSW 2 145,971,022 (GRCm39) splice site probably null
R6786:Cfap61 UTSW 2 145,887,363 (GRCm39) missense possibly damaging 0.84
R6933:Cfap61 UTSW 2 145,792,970 (GRCm39) splice site probably null
R7071:Cfap61 UTSW 2 145,843,832 (GRCm39) missense probably benign 0.02
R7132:Cfap61 UTSW 2 145,951,870 (GRCm39) missense probably damaging 0.97
R7312:Cfap61 UTSW 2 145,887,390 (GRCm39) nonsense probably null
R7390:Cfap61 UTSW 2 145,843,802 (GRCm39) missense probably benign 0.00
R7446:Cfap61 UTSW 2 145,995,758 (GRCm39) missense probably benign 0.00
R7515:Cfap61 UTSW 2 145,884,645 (GRCm39) missense unknown
R7609:Cfap61 UTSW 2 145,954,453 (GRCm39) missense unknown
R7780:Cfap61 UTSW 2 145,995,692 (GRCm39) missense possibly damaging 0.77
R7908:Cfap61 UTSW 2 145,944,019 (GRCm39) missense probably damaging 1.00
R7938:Cfap61 UTSW 2 145,887,376 (GRCm39) missense probably benign 0.09
R8054:Cfap61 UTSW 2 145,815,438 (GRCm39) missense probably damaging 1.00
R8153:Cfap61 UTSW 2 146,042,704 (GRCm39) missense probably benign 0.26
R8195:Cfap61 UTSW 2 145,789,095 (GRCm39) missense probably benign
R8224:Cfap61 UTSW 2 145,781,800 (GRCm39) missense probably benign
R8411:Cfap61 UTSW 2 145,789,103 (GRCm39) missense probably benign 0.01
R8702:Cfap61 UTSW 2 146,042,710 (GRCm39) missense probably benign
R8936:Cfap61 UTSW 2 145,791,879 (GRCm39) missense possibly damaging 0.95
R9036:Cfap61 UTSW 2 145,850,839 (GRCm39) missense probably benign 0.05
R9079:Cfap61 UTSW 2 145,781,859 (GRCm39) missense probably benign 0.02
R9137:Cfap61 UTSW 2 146,042,685 (GRCm39) missense probably benign 0.01
R9184:Cfap61 UTSW 2 145,919,308 (GRCm39) missense probably null 1.00
R9423:Cfap61 UTSW 2 145,985,155 (GRCm39) missense probably damaging 1.00
R9467:Cfap61 UTSW 2 145,971,149 (GRCm39) missense probably benign
R9477:Cfap61 UTSW 2 145,985,032 (GRCm39) missense probably benign 0.01
R9646:Cfap61 UTSW 2 145,854,152 (GRCm39) missense probably damaging 1.00
R9688:Cfap61 UTSW 2 145,878,758 (GRCm39) missense probably damaging 0.98
X0022:Cfap61 UTSW 2 145,971,010 (GRCm39) missense probably benign 0.28
Z1088:Cfap61 UTSW 2 145,971,147 (GRCm39) missense probably benign 0.27
Z1177:Cfap61 UTSW 2 145,995,720 (GRCm39) missense probably damaging 1.00
Z1177:Cfap61 UTSW 2 145,854,082 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TGGTGAATACTTCTTGGCCG -3'
(R):5'- ATTACCTAGAAGGGTGTGCAG -3'

Sequencing Primer
(F):5'- GTGAATACTTCTTGGCCGAACTGATC -3'
(R):5'- GGCAGGACATCTAACCATACTGTG -3'
Posted On 2019-10-24