Incidental Mutation 'R7375:Cfap91'
ID 572352
Institutional Source Beutler Lab
Gene Symbol Cfap91
Ensembl Gene ENSMUSG00000022805
Gene Name cilia and flagella associated protein 91
Synonyms 4932425I24Rik, Spata26, Maats1
MMRRC Submission 045458-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7375 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38118116-38162222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38155980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 81 (H81L)
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: H81L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: H81L

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: H81L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: H81L

DomainStartEndE-ValueType
Pfam:PaaSYMP 189 342 1.3e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,968,671 (GRCm39) I337V probably benign Het
Abl2 A G 1: 156,450,184 (GRCm39) D117G probably damaging Het
Arhgap5 T A 12: 52,563,365 (GRCm39) L112* probably null Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Ccdc168 A T 1: 44,099,694 (GRCm39) I468N possibly damaging Het
Cmya5 T G 13: 93,228,169 (GRCm39) K2306N probably damaging Het
Col16a1 A C 4: 129,959,294 (GRCm39) K680T unknown Het
Col28a1 T A 6: 7,998,499 (GRCm39) T1137S possibly damaging Het
Crnn A T 3: 93,056,452 (GRCm39) T413S possibly damaging Het
Csf1 A G 3: 107,655,495 (GRCm39) L512P possibly damaging Het
Dlx3 C A 11: 95,011,461 (GRCm39) A105D possibly damaging Het
Dnah3 T G 7: 119,550,900 (GRCm39) T161P probably damaging Het
Dnah7b A G 1: 46,342,794 (GRCm39) D3435G probably damaging Het
Dpp10 A G 1: 123,295,524 (GRCm39) I541T probably benign Het
Efcc1 T C 6: 87,728,838 (GRCm39) V431A possibly damaging Het
Enpp5 T C 17: 44,391,868 (GRCm39) I99T probably benign Het
Gm11232 C T 4: 71,675,583 (GRCm39) W59* probably null Het
Gxylt2 A T 6: 100,727,383 (GRCm39) T166S probably benign Het
Herc6 A T 6: 57,628,791 (GRCm39) probably null Het
Itga2 T C 13: 115,005,753 (GRCm39) I476V probably benign Het
Kcnq5 T C 1: 21,539,710 (GRCm39) T403A possibly damaging Het
Klhl42 A G 6: 146,993,538 (GRCm39) K170R probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Krt32 G T 11: 99,972,050 (GRCm39) R433S probably benign Het
Lrp1 G T 10: 127,375,217 (GRCm39) T4461N probably damaging Het
Mapk10 A T 5: 103,124,256 (GRCm39) M256K probably null Het
Mogat2 T C 7: 98,872,905 (GRCm39) K93R probably damaging Het
Myh1 G T 11: 67,101,254 (GRCm39) V677L probably damaging Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Oog4 G A 4: 143,165,544 (GRCm39) T201M possibly damaging Het
Or4a70 C T 2: 89,324,036 (GRCm39) G207R possibly damaging Het
Pik3c2a T C 7: 115,975,621 (GRCm39) T649A probably damaging Het
Plec T A 15: 76,061,555 (GRCm39) H2794L possibly damaging Het
Pros1 T A 16: 62,744,913 (GRCm39) N509K probably damaging Het
Psme3ip1 G A 8: 95,309,636 (GRCm39) L119F probably benign Het
Psme4 T A 11: 30,722,700 (GRCm39) probably null Het
Ptprf A G 4: 118,070,011 (GRCm39) V1457A probably benign Het
Rad50 A G 11: 53,543,055 (GRCm39) probably null Het
Rfx5 C T 3: 94,866,053 (GRCm39) P451S unknown Het
Scpppq1 G T 5: 104,219,123 (GRCm39) probably null Het
Sdk1 G T 5: 141,984,598 (GRCm39) V728L probably benign Het
Sfxn4 T C 19: 60,847,112 (GRCm39) D57G probably benign Het
Slc10a4 A G 5: 73,169,650 (GRCm39) D425G probably benign Het
Slc17a5 C T 9: 78,495,174 (GRCm39) A26T probably benign Het
Slc22a26 A T 19: 7,760,509 (GRCm39) probably null Het
Slc22a30 A G 19: 8,382,055 (GRCm39) L72P probably damaging Het
Slco6c1 T C 1: 97,009,146 (GRCm39) T447A possibly damaging Het
Slco6d1 A G 1: 98,349,172 (GRCm39) N81S probably damaging Het
Stard9 T C 2: 120,495,483 (GRCm39) probably null Het
Tecpr1 T C 5: 144,145,417 (GRCm39) E610G possibly damaging Het
Tmem81 G T 1: 132,435,301 (GRCm39) V36L possibly damaging Het
Trabd2b G T 4: 114,467,194 (GRCm39) K474N probably benign Het
Tspan33 T C 6: 29,713,519 (GRCm39) F149L probably benign Het
Ttn A G 2: 76,606,683 (GRCm39) Y18076H probably damaging Het
Utrn G A 10: 12,516,764 (GRCm39) R2277C probably damaging Het
Vmn2r101 T A 17: 19,831,652 (GRCm39) D549E probably damaging Het
Vmn2r107 T A 17: 20,576,138 (GRCm39) I156K probably benign Het
Wwc2 T G 8: 48,316,955 (GRCm39) S713R unknown Het
Xndc1 C A 7: 101,730,687 (GRCm39) probably null Het
Zfp810 A G 9: 22,201,833 (GRCm39) 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
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
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
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'- GAAAGAGGGATTTACATCACAGCTG -3'
(R):5'- GGTACCAGTGACTCCTCTTTTG -3'

Sequencing Primer
(F):5'- GAGGGATTTACATCACAGCTGTAAAC -3'
(R):5'- GCTGCTACATACGTCATCTGTAC -3'
Posted On 2019-09-13