Incidental Mutation 'R0193:Cfap74'
ID 23208
Institutional Source Beutler Lab
Gene Symbol Cfap74
Ensembl Gene ENSMUSG00000078490
Gene Name cilia and flagella associated protein 74
Synonyms 2010015L04Rik
MMRRC Submission 038452-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0193 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155493647-155551280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 155510572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 386 (R386C)
Ref Sequence ENSEMBL: ENSMUSP00000123626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123952] [ENSMUST00000151083]
AlphaFold Q3UY96
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094408
SMART Domains Protein: ENSMUSP00000091975
Gene: ENSMUSG00000042233

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
coiled coil region 134 162 N/A INTRINSIC
coiled coil region 333 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123952
SMART Domains Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145520
Predicted Effect probably benign
Transcript: ENSMUST00000151083
AA Change: R386C

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: R386C

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
coiled coil region 134 162 N/A INTRINSIC
coiled coil region 333 378 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166921
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 94.7%
  • 20x: 85.3%
Validation Efficiency 95% (186/196)
Allele List at MGI

All alleles(7) : Targeted(2) Gene trapped(5)

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,444,005 (GRCm39) S96P probably damaging Het
Akr1c20 A G 13: 4,561,292 (GRCm39) probably benign Het
Atp2a3 G T 11: 72,863,046 (GRCm39) V99L possibly damaging Het
Atp6v0a1 T A 11: 100,939,308 (GRCm39) I691N possibly damaging Het
Atp8b1 C T 18: 64,694,707 (GRCm39) R525Q probably benign Het
Aurkb A G 11: 68,939,370 (GRCm39) D151G probably damaging Het
Bank1 A T 3: 135,772,279 (GRCm39) probably benign Het
Bcl9l T C 9: 44,418,703 (GRCm39) L847P probably damaging Het
Bscl2 T A 19: 8,824,793 (GRCm39) M292K probably benign Het
Cacna1c C T 6: 118,579,363 (GRCm39) probably benign Het
Cadps2 T C 6: 23,599,439 (GRCm39) K260R probably benign Het
Cc2d2a T C 5: 43,893,460 (GRCm39) S1419P probably damaging Het
Ccdc180 G A 4: 45,914,803 (GRCm39) E145K probably benign Het
Ccno C T 13: 113,125,418 (GRCm39) probably benign Het
Cd300a A G 11: 114,784,202 (GRCm39) D70G probably benign Het
Cenpc1 T C 5: 86,180,262 (GRCm39) D670G probably benign Het
Cenpl A G 1: 160,913,558 (GRCm39) I323V probably damaging Het
Cfap44 A G 16: 44,269,573 (GRCm39) probably null Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clcnkb T C 4: 141,139,627 (GRCm39) E125G possibly damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Coro7 G A 16: 4,445,368 (GRCm39) probably benign Het
Dchs1 C T 7: 105,414,190 (GRCm39) R875H probably benign Het
Eif3j1 A C 2: 121,882,508 (GRCm39) M239L probably benign Het
Eif4g3 G T 4: 137,873,687 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Erbb4 T C 1: 68,083,119 (GRCm39) probably benign Het
Erlin2 T G 8: 27,521,792 (GRCm39) V164G possibly damaging Het
Fbxo43 G T 15: 36,162,029 (GRCm39) Q393K probably benign Het
Fcgr4 A T 1: 170,853,329 (GRCm39) N178I possibly damaging Het
Grid2 A G 6: 64,040,937 (GRCm39) N293S possibly damaging Het
H2-M1 C T 17: 36,982,224 (GRCm39) V126I probably benign Het
Htr1f T A 16: 64,747,112 (GRCm39) Y60F probably damaging Het
Ilf2 A G 3: 90,388,646 (GRCm39) probably null Het
Impg2 A T 16: 56,085,412 (GRCm39) K931* probably null Het
Ints1 T C 5: 139,737,485 (GRCm39) E2176G probably damaging Het
Iqsec2 T C X: 151,006,399 (GRCm39) V1319A probably benign Het
Iqsec3 G T 6: 121,387,683 (GRCm39) D685E probably damaging Het
Itgbl1 G A 14: 124,083,958 (GRCm39) V279I probably benign Het
Kdm4b C T 17: 56,700,952 (GRCm39) A541V probably benign Het
Kif14 A T 1: 136,396,176 (GRCm39) T161S probably benign Het
Krt86 T C 15: 101,377,244 (GRCm39) probably benign Het
Kyat1 C T 2: 30,077,198 (GRCm39) probably null Het
Limch1 T C 5: 67,184,882 (GRCm39) W791R probably damaging Het
Map3k11 T A 19: 5,745,874 (GRCm39) M396K probably damaging Het
Mat2a A G 6: 72,413,178 (GRCm39) probably null Het
Mbnl2 A G 14: 120,616,649 (GRCm39) I88V possibly damaging Het
Mib2 T C 4: 155,740,130 (GRCm39) T708A probably benign Het
Mix23 T C 16: 35,903,184 (GRCm39) S59P probably damaging Het
Mkks T C 2: 136,719,526 (GRCm39) probably null Het
Mtss1 T C 15: 58,815,866 (GRCm39) M565V probably damaging Het
Myoc A G 1: 162,476,604 (GRCm39) N436S probably damaging Het
Myod1 T A 7: 46,026,536 (GRCm39) V147E probably damaging Het
Ngef A G 1: 87,437,056 (GRCm39) L144P probably benign Het
Ngrn C T 7: 79,911,678 (GRCm39) R92W probably damaging Het
Nup153 G A 13: 46,863,130 (GRCm39) T349I probably benign Het
Or4c15 T A 2: 88,760,627 (GRCm39) I11L probably benign Het
Or52ad1 G T 7: 102,995,411 (GRCm39) S241R possibly damaging Het
Pigl A G 11: 62,394,574 (GRCm39) I135M probably damaging Het
Pitpnm3 A G 11: 71,961,318 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,429,141 (GRCm39) F2420I probably damaging Het
Polr2b C T 5: 77,467,923 (GRCm39) T119M probably damaging Het
Prr29 A G 11: 106,267,722 (GRCm39) Y130C probably damaging Het
Rab11fip3 T C 17: 26,209,973 (GRCm39) I1048V probably damaging Het
Rab12 G A 17: 66,807,357 (GRCm39) T124I probably damaging Het
Rab44 A G 17: 29,359,281 (GRCm39) S490G probably benign Het
Rasa3 A G 8: 13,620,233 (GRCm39) probably null Het
Rhbdl3 C T 11: 80,244,400 (GRCm39) S369L possibly damaging Het
Rimbp2 A T 5: 128,865,420 (GRCm39) S643T probably benign Het
Rin1 T G 19: 5,102,680 (GRCm39) S396R probably damaging Het
Rpusd3 C T 6: 113,396,198 (GRCm39) G28S probably damaging Het
Rtl9 T A X: 141,883,274 (GRCm39) S229T probably damaging Het
Rufy1 G T 11: 50,280,679 (GRCm39) T701N probably benign Het
Scn4a A T 11: 106,211,364 (GRCm39) L1551* probably null Het
Sec24b T C 3: 129,782,633 (GRCm39) N1119S probably null Het
Serbp1 T A 6: 67,249,868 (GRCm39) *75R probably null Het
Setx C T 2: 29,069,685 (GRCm39) P2497S probably benign Het
Slc26a11 A T 11: 119,250,140 (GRCm39) I132F probably damaging Het
Slc4a1 A G 11: 102,243,510 (GRCm39) V707A possibly damaging Het
Slfn1 A G 11: 83,012,669 (GRCm39) I262V probably damaging Het
Tmem168 T A 6: 13,583,312 (GRCm39) D523V possibly damaging Het
Traf7 G T 17: 24,729,525 (GRCm39) Q469K probably benign Het
Trdmt1 C A 2: 13,549,428 (GRCm39) V6F probably damaging Het
Tsacc A T 3: 88,194,395 (GRCm39) probably benign Het
Vmn2r5 A G 3: 64,398,951 (GRCm39) I589T possibly damaging Het
Vmn2r7 T C 3: 64,598,460 (GRCm39) D699G probably damaging Het
Vmn2r82 T C 10: 79,217,129 (GRCm39) V487A probably damaging Het
Zbtb47 T C 9: 121,596,732 (GRCm39) V696A probably damaging Het
Zfp287 A T 11: 62,605,855 (GRCm39) S351T probably benign Het
Zfp654 T C 16: 64,606,051 (GRCm39) H176R possibly damaging Het
Other mutations in Cfap74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Cfap74 APN 4 155,503,443 (GRCm39) missense possibly damaging 0.95
paranoid UTSW 4 155,538,481 (GRCm39) utr 5 prime probably benign
sensibile UTSW 4 155,525,743 (GRCm39) missense probably null 0.03
touchy UTSW 4 155,547,529 (GRCm39) missense probably benign 0.27
FR4304:Cfap74 UTSW 4 155,500,217 (GRCm39) missense possibly damaging 0.93
P0007:Cfap74 UTSW 4 155,506,685 (GRCm39) missense possibly damaging 0.83
PIT4434001:Cfap74 UTSW 4 155,548,421 (GRCm39) missense unknown
R0025:Cfap74 UTSW 4 155,510,572 (GRCm39) missense probably benign 0.22
R0034:Cfap74 UTSW 4 155,545,344 (GRCm39) splice site probably benign
R0306:Cfap74 UTSW 4 155,549,896 (GRCm39) unclassified probably benign
R0427:Cfap74 UTSW 4 155,525,734 (GRCm39) missense probably benign 0.02
R0905:Cfap74 UTSW 4 155,503,153 (GRCm39) critical splice donor site probably null
R1116:Cfap74 UTSW 4 155,518,453 (GRCm39) missense probably benign 0.15
R1548:Cfap74 UTSW 4 155,518,502 (GRCm39) missense probably benign 0.45
R1950:Cfap74 UTSW 4 155,511,887 (GRCm39) critical splice donor site probably null
R2009:Cfap74 UTSW 4 155,504,724 (GRCm39) missense possibly damaging 0.77
R2029:Cfap74 UTSW 4 155,526,538 (GRCm39) missense possibly damaging 0.74
R2135:Cfap74 UTSW 4 155,514,408 (GRCm39) missense probably damaging 1.00
R2135:Cfap74 UTSW 4 155,514,397 (GRCm39) missense probably damaging 0.97
R2154:Cfap74 UTSW 4 155,513,753 (GRCm39) missense possibly damaging 0.94
R2413:Cfap74 UTSW 4 155,503,081 (GRCm39) missense possibly damaging 0.76
R2418:Cfap74 UTSW 4 155,540,166 (GRCm39) utr 5 prime probably benign
R2930:Cfap74 UTSW 4 155,522,627 (GRCm39) missense probably damaging 0.97
R3965:Cfap74 UTSW 4 155,531,174 (GRCm39) missense probably damaging 1.00
R4078:Cfap74 UTSW 4 155,540,128 (GRCm39) missense probably damaging 0.98
R4238:Cfap74 UTSW 4 155,547,529 (GRCm39) missense probably benign 0.27
R4239:Cfap74 UTSW 4 155,547,529 (GRCm39) missense probably benign 0.27
R4240:Cfap74 UTSW 4 155,547,529 (GRCm39) missense probably benign 0.27
R4491:Cfap74 UTSW 4 155,513,628 (GRCm39) missense probably benign 0.22
R4731:Cfap74 UTSW 4 155,548,059 (GRCm39) intron probably benign
R5333:Cfap74 UTSW 4 155,521,197 (GRCm39) missense probably damaging 0.99
R5362:Cfap74 UTSW 4 155,522,623 (GRCm39) missense probably damaging 0.98
R5425:Cfap74 UTSW 4 155,540,149 (GRCm39) utr 5 prime probably benign
R5468:Cfap74 UTSW 4 155,510,498 (GRCm39) missense probably benign 0.27
R5839:Cfap74 UTSW 4 155,507,207 (GRCm39) critical splice donor site probably null
R6010:Cfap74 UTSW 4 155,538,495 (GRCm39) missense possibly damaging 0.83
R6284:Cfap74 UTSW 4 155,536,253 (GRCm39) missense probably damaging 0.96
R6323:Cfap74 UTSW 4 155,548,395 (GRCm39) missense possibly damaging 0.54
R6389:Cfap74 UTSW 4 155,507,793 (GRCm39) missense possibly damaging 0.69
R6513:Cfap74 UTSW 4 155,525,743 (GRCm39) missense probably null 0.03
R6527:Cfap74 UTSW 4 155,506,722 (GRCm39) splice site probably null
R6785:Cfap74 UTSW 4 155,538,481 (GRCm39) utr 5 prime probably benign
R6980:Cfap74 UTSW 4 155,550,809 (GRCm39) unclassified probably benign
R7039:Cfap74 UTSW 4 155,538,565 (GRCm39) critical splice donor site probably null
R7077:Cfap74 UTSW 4 155,540,134 (GRCm39) missense unknown
R7116:Cfap74 UTSW 4 155,539,518 (GRCm39) missense unknown
R7202:Cfap74 UTSW 4 155,510,654 (GRCm39) splice site probably null
R7227:Cfap74 UTSW 4 155,545,405 (GRCm39) nonsense probably null
R7228:Cfap74 UTSW 4 155,549,507 (GRCm39) missense unknown
R7261:Cfap74 UTSW 4 155,549,831 (GRCm39) missense unknown
R7315:Cfap74 UTSW 4 155,547,476 (GRCm39) missense unknown
R7337:Cfap74 UTSW 4 155,544,472 (GRCm39) missense unknown
R7354:Cfap74 UTSW 4 155,549,804 (GRCm39) missense unknown
R7533:Cfap74 UTSW 4 155,500,200 (GRCm39) missense
R7673:Cfap74 UTSW 4 155,547,513 (GRCm39) missense unknown
R7798:Cfap74 UTSW 4 155,507,079 (GRCm39) missense
R7829:Cfap74 UTSW 4 155,513,694 (GRCm39) missense
R7897:Cfap74 UTSW 4 155,514,351 (GRCm39) missense
R8099:Cfap74 UTSW 4 155,539,489 (GRCm39) missense unknown
R8126:Cfap74 UTSW 4 155,511,831 (GRCm39) missense
R8769:Cfap74 UTSW 4 155,503,105 (GRCm39) missense
R8873:Cfap74 UTSW 4 155,539,465 (GRCm39) missense unknown
R8893:Cfap74 UTSW 4 155,531,152 (GRCm39) missense unknown
R8900:Cfap74 UTSW 4 155,521,187 (GRCm39) missense
R8954:Cfap74 UTSW 4 155,521,187 (GRCm39) missense
R8957:Cfap74 UTSW 4 155,521,187 (GRCm39) missense
R8982:Cfap74 UTSW 4 155,521,187 (GRCm39) missense
R9008:Cfap74 UTSW 4 155,503,121 (GRCm39) missense
R9406:Cfap74 UTSW 4 155,510,626 (GRCm39) nonsense probably null
R9606:Cfap74 UTSW 4 155,509,133 (GRCm39) missense
R9641:Cfap74 UTSW 4 155,549,054 (GRCm39) missense unknown
R9647:Cfap74 UTSW 4 155,549,373 (GRCm39) missense unknown
R9655:Cfap74 UTSW 4 155,522,665 (GRCm39) missense
R9761:Cfap74 UTSW 4 155,550,844 (GRCm39) missense unknown
R9797:Cfap74 UTSW 4 155,514,402 (GRCm39) missense
T0970:Cfap74 UTSW 4 155,547,574 (GRCm39) splice site probably null
X0066:Cfap74 UTSW 4 155,548,421 (GRCm39) missense probably damaging 1.00
Z1176:Cfap74 UTSW 4 155,510,575 (GRCm39) missense
Z1177:Cfap74 UTSW 4 155,539,370 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AAGTTACACCTCCAGTCACTTTGCC -3'
(R):5'- TTCAGCGTTCAGGGAGACACTAGG -3'

Sequencing Primer
(F):5'- TTGGCTTCCCAGAGAGCTAAG -3'
(R):5'- TGTATGGACTGGCTACACAC -3'
Posted On 2013-04-16