Incidental Mutation 'R7271:Cfap91'
ID 565322
Institutional Source Beutler Lab
Gene Symbol Cfap91
Ensembl Gene ENSMUSG00000022805
Gene Name cilia and flagella associated protein 91
Synonyms 4932425I24Rik, Spata26, Maats1
MMRRC Submission 045356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7271 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38118116-38162222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38148708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 240 (I240T)
Ref Sequence ENSEMBL: ENSMUSP00000023501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023501] [ENSMUST00000114740]
AlphaFold Q8BRC6
Predicted Effect probably damaging
Transcript: ENSMUST00000023501
AA Change: I240T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: I240T

DomainStartEndE-ValueType
Pfam:PaaSYMP 190 342 1.4e-65 PFAM
low complexity region 413 428 N/A INTRINSIC
low complexity region 513 526 N/A INTRINSIC
low complexity region 599 613 N/A INTRINSIC
coiled coil region 650 682 N/A INTRINSIC
coiled coil region 737 763 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114740
AA Change: I240T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: I240T

DomainStartEndE-ValueType
Pfam:PaaSYMP 189 342 1.3e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l C T 10: 42,291,544 (GRCm39) probably null Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alpk3 A G 7: 80,728,202 (GRCm39) E444G possibly damaging Het
Amer2 T A 14: 60,617,123 (GRCm39) D439E possibly damaging Het
Ano6 A G 15: 95,811,781 (GRCm39) Y222C probably damaging Het
Atp4a A C 7: 30,421,944 (GRCm39) K827Q probably benign Het
Atp9a G A 2: 168,576,047 (GRCm39) Het
Casp7 T A 19: 56,424,793 (GRCm39) C171S probably damaging Het
Ccdc9b T A 2: 118,591,164 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdkl1 A G 12: 69,795,585 (GRCm39) L315S probably benign Het
Crybg1 G T 10: 43,873,619 (GRCm39) S1163* probably null Het
Csmd1 A T 8: 17,077,295 (GRCm39) W121R probably damaging Het
Cyyr1 A T 16: 85,262,493 (GRCm39) M88K possibly damaging Het
Dlc1 T C 8: 37,049,954 (GRCm39) Q587R probably damaging Het
Dock2 T C 11: 34,223,750 (GRCm39) E1128G possibly damaging Het
Dynap T A 18: 70,374,320 (GRCm39) T69S possibly damaging Het
Esr1 T C 10: 4,733,874 (GRCm39) C225R probably damaging Het
Fbxo31 C T 8: 122,305,503 (GRCm39) probably benign Het
Fndc11 G A 2: 180,863,893 (GRCm39) V233I possibly damaging Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gtf2ird1 A G 5: 134,433,758 (GRCm39) L223P probably benign Het
Ifi214 A T 1: 173,357,042 (GRCm39) H20Q probably damaging Het
Impa2 T A 18: 67,439,806 (GRCm39) I101N probably damaging Het
Kidins220 A T 12: 25,061,570 (GRCm39) T854S probably benign Het
Lamb1 T A 12: 31,337,423 (GRCm39) C385S probably damaging Het
Lrrc8c A G 5: 105,755,853 (GRCm39) S543G probably benign Het
Manba A T 3: 135,248,137 (GRCm39) Y342F probably damaging Het
Map3k1 T C 13: 111,893,231 (GRCm39) D758G probably benign Het
Mtor G T 4: 148,630,942 (GRCm39) A2300S possibly damaging Het
Musk T A 4: 58,373,409 (GRCm39) M793K probably damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Or10ab4 G A 7: 107,654,423 (GRCm39) R78Q probably damaging Het
Or10ag55-ps1 T A 2: 87,114,725 (GRCm39) N30K probably benign Het
Or4k77 A G 2: 111,199,693 (GRCm39) T239A probably damaging Het
Or8g21 A T 9: 38,905,953 (GRCm39) Y259* probably null Het
Pcdh12 C A 18: 38,416,100 (GRCm39) V342F probably damaging Het
Pcdhb4 T A 18: 37,441,222 (GRCm39) H177Q possibly damaging Het
Pcnx2 G A 8: 126,613,690 (GRCm39) A587V probably benign Het
Phkb C T 8: 86,770,418 (GRCm39) P896S probably damaging Het
Prss36 A G 7: 127,543,877 (GRCm39) S165P probably benign Het
Prss43 A G 9: 110,657,671 (GRCm39) D190G probably damaging Het
Psmd14 T C 2: 61,591,356 (GRCm39) V53A probably damaging Het
Sel1l3 T G 5: 53,273,704 (GRCm39) H1054P probably damaging Het
Selenoh T C 2: 84,500,631 (GRCm39) R70G probably damaging Het
Serpinb9d A G 13: 33,378,617 (GRCm39) Q21R probably benign Het
Slc29a1 T C 17: 45,899,288 (GRCm39) E262G probably benign Het
Slc7a14 A G 3: 31,278,384 (GRCm39) L407P probably damaging Het
Smyd4 T C 11: 75,281,325 (GRCm39) V266A possibly damaging Het
Spata31d1a T A 13: 59,849,913 (GRCm39) R738S probably benign Het
Speer4a2 G A 5: 26,292,993 (GRCm39) T67I probably benign Het
Srcin1 C T 11: 97,442,715 (GRCm39) G38S probably damaging Het
Stab2 A T 10: 86,838,972 (GRCm39) probably null Het
Syde2 A G 3: 145,726,031 (GRCm39) N1308D possibly damaging Het
Trip11 A T 12: 101,850,611 (GRCm39) M1151K probably damaging Het
Ttll4 A T 1: 74,727,820 (GRCm39) I861F possibly damaging Het
Zfp319 G A 8: 96,058,471 (GRCm39) probably benign Het
Zfp518b T C 5: 38,831,907 (GRCm39) N33D probably benign Het
Zfp874a T A 13: 67,591,415 (GRCm39) I90F probably benign Het
Zmiz2 G T 11: 6,349,593 (GRCm39) V412L probably damaging Het
Other mutations in Cfap91
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Cfap91 APN 16 38,156,704 (GRCm39) critical splice donor site probably null
IGL02243:Cfap91 APN 16 38,162,142 (GRCm39) utr 5 prime probably benign
IGL02377:Cfap91 APN 16 38,153,181 (GRCm39) splice site probably benign
IGL02604:Cfap91 APN 16 38,141,921 (GRCm39) unclassified probably benign
IGL02623:Cfap91 APN 16 38,154,140 (GRCm39) missense possibly damaging 0.51
IGL02985:Cfap91 APN 16 38,118,634 (GRCm39) missense probably damaging 0.98
IGL03389:Cfap91 APN 16 38,144,498 (GRCm39) critical splice donor site probably null
PIT4280001:Cfap91 UTSW 16 38,153,135 (GRCm39) missense probably benign 0.23
PIT4449001:Cfap91 UTSW 16 38,148,720 (GRCm39) missense probably damaging 1.00
R0076:Cfap91 UTSW 16 38,123,046 (GRCm39) nonsense probably null
R0076:Cfap91 UTSW 16 38,123,046 (GRCm39) nonsense probably null
R0360:Cfap91 UTSW 16 38,118,659 (GRCm39) critical splice acceptor site probably null
R0501:Cfap91 UTSW 16 38,155,997 (GRCm39) missense probably damaging 1.00
R0523:Cfap91 UTSW 16 38,148,736 (GRCm39) missense probably damaging 1.00
R0743:Cfap91 UTSW 16 38,155,996 (GRCm39) missense probably damaging 0.99
R0900:Cfap91 UTSW 16 38,156,764 (GRCm39) missense possibly damaging 0.70
R1218:Cfap91 UTSW 16 38,118,495 (GRCm39) missense probably benign
R1499:Cfap91 UTSW 16 38,141,762 (GRCm39) missense probably damaging 0.96
R1693:Cfap91 UTSW 16 38,162,085 (GRCm39) missense probably benign
R1793:Cfap91 UTSW 16 38,141,781 (GRCm39) missense possibly damaging 0.77
R1854:Cfap91 UTSW 16 38,144,659 (GRCm39) splice site probably null
R2007:Cfap91 UTSW 16 38,118,616 (GRCm39) missense probably benign 0.02
R2126:Cfap91 UTSW 16 38,162,124 (GRCm39) missense probably benign 0.19
R2443:Cfap91 UTSW 16 38,123,094 (GRCm39) missense probably damaging 1.00
R2857:Cfap91 UTSW 16 38,123,075 (GRCm39) missense probably damaging 1.00
R2937:Cfap91 UTSW 16 38,131,400 (GRCm39) missense possibly damaging 0.65
R3441:Cfap91 UTSW 16 38,154,168 (GRCm39) missense probably benign 0.03
R3442:Cfap91 UTSW 16 38,154,168 (GRCm39) missense probably benign 0.03
R4056:Cfap91 UTSW 16 38,118,576 (GRCm39) missense probably benign
R4057:Cfap91 UTSW 16 38,118,576 (GRCm39) missense probably benign
R4424:Cfap91 UTSW 16 38,140,727 (GRCm39) missense probably damaging 1.00
R4493:Cfap91 UTSW 16 38,162,130 (GRCm39) missense probably benign 0.00
R4546:Cfap91 UTSW 16 38,155,885 (GRCm39) missense probably benign 0.11
R5177:Cfap91 UTSW 16 38,152,683 (GRCm39) missense probably benign 0.00
R5496:Cfap91 UTSW 16 38,141,855 (GRCm39) missense probably damaging 1.00
R5868:Cfap91 UTSW 16 38,152,604 (GRCm39) missense probably damaging 1.00
R5944:Cfap91 UTSW 16 38,148,672 (GRCm39) missense probably damaging 0.97
R6165:Cfap91 UTSW 16 38,154,173 (GRCm39) missense possibly damaging 0.93
R6521:Cfap91 UTSW 16 38,127,121 (GRCm39) missense probably benign 0.06
R6804:Cfap91 UTSW 16 38,152,604 (GRCm39) missense probably damaging 0.97
R7086:Cfap91 UTSW 16 38,127,219 (GRCm39) missense possibly damaging 0.70
R7202:Cfap91 UTSW 16 38,155,959 (GRCm39) missense probably benign 0.00
R7325:Cfap91 UTSW 16 38,141,963 (GRCm39) splice site probably null
R7375:Cfap91 UTSW 16 38,155,980 (GRCm39) missense probably damaging 0.97
R7453:Cfap91 UTSW 16 38,141,841 (GRCm39) missense possibly damaging 0.51
R7604:Cfap91 UTSW 16 38,118,598 (GRCm39) nonsense probably null
R8040:Cfap91 UTSW 16 38,140,733 (GRCm39) missense possibly damaging 0.89
R8702:Cfap91 UTSW 16 38,152,674 (GRCm39) missense probably benign 0.00
R9012:Cfap91 UTSW 16 38,122,335 (GRCm39) missense probably damaging 0.98
R9164:Cfap91 UTSW 16 38,155,960 (GRCm39) missense possibly damaging 0.80
R9566:Cfap91 UTSW 16 38,155,996 (GRCm39) missense probably damaging 0.99
R9749:Cfap91 UTSW 16 38,128,487 (GRCm39) missense probably damaging 0.99
X0062:Cfap91 UTSW 16 38,118,461 (GRCm39) missense possibly damaging 0.70
X0067:Cfap91 UTSW 16 38,127,222 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- AACGTGTGTACACCCATGAG -3'
(R):5'- CTAAAACAATGTCTGCCTCAGTAAGAG -3'

Sequencing Primer
(F):5'- TGTGTACACCCATGAGCCCAG -3'
(R):5'- CACGAAGGCCACATGCTAGTTTTG -3'
Posted On 2019-06-26