Incidental Mutation 'R3442:Cfap91'
ID 267429
Institutional Source Beutler Lab
Gene Symbol Cfap91
Ensembl Gene ENSMUSG00000022805
Gene Name cilia and flagella associated protein 91
Synonyms 4932425I24Rik, Spata26, Maats1
MMRRC Submission 040660-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3442 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 38118116-38162222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38154168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 126 (M126V)
Ref Sequence ENSEMBL: ENSMUSP00000110388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023501] [ENSMUST00000114740]
AlphaFold Q8BRC6
Predicted Effect probably benign
Transcript: ENSMUST00000023501
AA Change: M126V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: M126V

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 benign
Transcript: ENSMUST00000114740
AA Change: M126V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: M126V

DomainStartEndE-ValueType
Pfam:PaaSYMP 189 342 1.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141896
Meta Mutation Damage Score 0.0722 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,583 (GRCm39) Y26* probably null Het
Adam30 T C 3: 98,069,886 (GRCm39) I573T probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Dbt T A 3: 116,341,840 (GRCm39) D480E probably benign Het
Dmbt1 G A 7: 130,707,979 (GRCm39) C1407Y probably damaging Het
Frem3 C T 8: 81,339,669 (GRCm39) P654L probably damaging Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gpx1 C G 9: 108,216,549 (GRCm39) T13S probably benign Het
Grik3 C A 4: 125,587,763 (GRCm39) L628M probably damaging Het
Grik3 T A 4: 125,587,764 (GRCm39) L628Q probably damaging Het
Gsap A G 5: 21,483,125 (GRCm39) Y610C probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Msmb A G 14: 31,872,173 (GRCm39) N55D probably benign Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Mynn T C 3: 30,667,712 (GRCm39) F471L probably damaging Het
Or9i2 T C 19: 13,816,370 (GRCm39) T56A possibly damaging Het
Otof T C 5: 30,529,033 (GRCm39) R1792G probably damaging Het
Sil1 A T 18: 35,458,449 (GRCm39) L182H probably damaging Het
Sla C T 15: 66,655,509 (GRCm39) G210D probably benign Het
Slc26a7 C T 4: 14,565,511 (GRCm39) V191M probably benign Het
Trrap A G 5: 144,729,062 (GRCm39) M659V probably benign Het
Ubxn6 G T 17: 56,376,049 (GRCm39) Q371K probably benign Het
Zfat A T 15: 67,956,402 (GRCm39) D1143E probably benign Het
Zfat C T 15: 67,973,430 (GRCm39) A1122T probably damaging Het
Zfp950 A T 19: 61,107,170 (GRCm39) C149* probably null 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
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
R7271:Cfap91 UTSW 16 38,148,708 (GRCm39) missense probably damaging 1.00
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'- ATGCACCCTTTGTTGCCATG -3'
(R):5'- AATGTTGTGTCCCAGACAGG -3'

Sequencing Primer
(F):5'- ACCCTCTGTGATATGTCTGTTG -3'
(R):5'- CTCTGCTATTTTCATTAAGAGTGGC -3'
Posted On 2015-02-18