Incidental Mutation 'R1666:Cyfip1'
ID 187193
Institutional Source Beutler Lab
Gene Symbol Cyfip1
Ensembl Gene ENSMUSG00000030447
Gene Name cytoplasmic FMR1 interacting protein 1
Synonyms l7Rl1, E030028J09Rik, pl-1, Shyc, P140SRA-1, Sra-1, l(7)1Rl
MMRRC Submission 039702-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1666 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 55491556-55582381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55521646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 13 (N13K)
Ref Sequence ENSEMBL: ENSMUSP00000082353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000085255] [ENSMUST00000163845] [ENSMUST00000173783] [ENSMUST00000206862]
AlphaFold Q7TMB8
Predicted Effect probably damaging
Transcript: ENSMUST00000032629
AA Change: N13K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: N13K

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:DUF1394 59 302 5.7e-11 PFAM
Pfam:FragX_IP 389 1222 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085255
AA Change: N13K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: N13K

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1222 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163845
AA Change: N13K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: N13K

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1224 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168271
SMART Domains Protein: ENSMUSP00000131596
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:DUF1394 57 267 1.8e-9 PFAM
low complexity region 390 403 N/A INTRINSIC
low complexity region 411 428 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173497
Predicted Effect possibly damaging
Transcript: ENSMUST00000173783
AA Change: N13K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134509
Gene: ENSMUSG00000030447
AA Change: N13K

DomainStartEndE-ValueType
PDB:4N78|A 1 230 1e-142 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000206862
AA Change: N13K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 G A 15: 101,035,458 (GRCm39) R328H probably damaging Het
Afp T C 5: 90,652,927 (GRCm39) S466P probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Asic1 A G 15: 99,597,006 (GRCm39) D556G probably damaging Het
Atp2a3 T A 11: 72,869,633 (GRCm39) probably null Het
Brinp2 C A 1: 158,074,128 (GRCm39) E664D probably damaging Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Cd209f G A 8: 4,154,862 (GRCm39) Q79* probably null Het
Chrna7 T C 7: 62,861,890 (GRCm39) Y54C possibly damaging Het
Clec1a T C 6: 129,413,967 (GRCm39) D40G probably benign Het
Col11a1 A G 3: 113,855,184 (GRCm39) E148G unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cpz A G 5: 35,665,460 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Deup1 A T 9: 15,486,487 (GRCm39) Y398N possibly damaging Het
Elapor1 A G 3: 108,377,313 (GRCm39) S434P probably benign Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Exo1 T C 1: 175,736,052 (GRCm39) I812T possibly damaging Het
Fbxl17 A T 17: 63,692,060 (GRCm39) probably null Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabra6 A G 11: 42,208,461 (GRCm39) S124P probably damaging Het
Gje1 C A 10: 14,592,551 (GRCm39) W77L possibly damaging Het
Glra1 A G 11: 55,465,225 (GRCm39) S23P probably damaging Het
Gm6811 T C 17: 21,314,529 (GRCm39) noncoding transcript Het
Greb1l T A 18: 10,501,080 (GRCm39) probably null Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Grm6 A T 11: 50,750,711 (GRCm39) I625F probably damaging Het
Guca1a A G 17: 47,711,167 (GRCm39) F60L probably damaging Het
Hectd1 T A 12: 51,800,607 (GRCm39) E2070D possibly damaging Het
Itga5 G A 15: 103,256,329 (GRCm39) T910I probably benign Het
Kctd10 A G 5: 114,507,051 (GRCm39) V142A probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Lmtk3 A T 7: 45,443,588 (GRCm39) D757V probably benign Het
Lpcat1 T C 13: 73,658,242 (GRCm39) probably null Het
Lrrc30 A T 17: 67,939,200 (GRCm39) C127S probably benign Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Ntf3 T C 6: 126,079,401 (GRCm39) D35G possibly damaging Het
Or5g25 A T 2: 85,478,157 (GRCm39) C169* probably null Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp4 A T 14: 56,861,620 (GRCm39) K984N possibly damaging Het
Pdgfra G A 5: 75,349,681 (GRCm39) G892D possibly damaging Het
Pik3c2g A T 6: 139,612,634 (GRCm39) probably benign Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Pramel7 G A 2: 87,322,747 (GRCm39) P6S probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Ptgs2 A G 1: 149,977,021 (GRCm39) Y44C probably damaging Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rbm6 G A 9: 107,669,055 (GRCm39) T619I probably benign Het
Rp1 A G 1: 4,420,086 (GRCm39) I342T probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Sema5b C T 16: 35,478,852 (GRCm39) P559S probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Slc35f3 T A 8: 127,115,960 (GRCm39) S296T probably damaging Het
Slco1a8 T A 6: 141,927,775 (GRCm39) probably null Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spdya T A 17: 71,885,235 (GRCm39) C230S probably damaging Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Tapbpl A G 6: 125,207,164 (GRCm39) V175A probably benign Het
Tmt1a3 A G 15: 100,233,099 (GRCm39) I97V probably benign Het
Ttn T C 2: 76,642,095 (GRCm39) T13373A probably damaging Het
Tubb5 A T 17: 36,147,530 (GRCm39) N52K probably benign Het
Tyr T A 7: 87,142,149 (GRCm39) Y137F probably damaging Het
Unc45b T A 11: 82,808,565 (GRCm39) I217N probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Washc2 T A 6: 116,200,215 (GRCm39) probably null Het
Zfp566 A T 7: 29,777,901 (GRCm39) H93Q probably benign Het
Zfp740 A G 15: 102,116,753 (GRCm39) D56G probably damaging Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zmiz2 T G 11: 6,346,836 (GRCm39) S148R probably benign Het
Zmym6 T A 4: 127,016,652 (GRCm39) I719N probably damaging Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly damaging Het
Other mutations in Cyfip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Cyfip1 APN 7 55,553,958 (GRCm39) missense probably damaging 1.00
IGL01351:Cyfip1 APN 7 55,547,991 (GRCm39) nonsense probably null
IGL01662:Cyfip1 APN 7 55,546,487 (GRCm39) missense probably damaging 1.00
IGL02034:Cyfip1 APN 7 55,548,101 (GRCm39) missense probably damaging 0.99
IGL02039:Cyfip1 APN 7 55,524,769 (GRCm39) missense possibly damaging 0.90
IGL02063:Cyfip1 APN 7 55,576,096 (GRCm39) missense probably damaging 1.00
IGL02429:Cyfip1 APN 7 55,521,730 (GRCm39) splice site probably benign
IGL03256:Cyfip1 APN 7 55,557,182 (GRCm39) missense possibly damaging 0.67
R0455:Cyfip1 UTSW 7 55,541,802 (GRCm39) missense probably benign 0.18
R0546:Cyfip1 UTSW 7 55,572,564 (GRCm39) nonsense probably null
R0671:Cyfip1 UTSW 7 55,573,710 (GRCm39) splice site probably null
R0732:Cyfip1 UTSW 7 55,536,529 (GRCm39) missense probably damaging 1.00
R0843:Cyfip1 UTSW 7 55,572,568 (GRCm39) missense probably benign 0.24
R1789:Cyfip1 UTSW 7 55,576,143 (GRCm39) missense probably damaging 1.00
R1817:Cyfip1 UTSW 7 55,523,196 (GRCm39) missense possibly damaging 0.51
R1929:Cyfip1 UTSW 7 55,549,705 (GRCm39) missense probably null 1.00
R2271:Cyfip1 UTSW 7 55,549,705 (GRCm39) missense probably null 1.00
R2272:Cyfip1 UTSW 7 55,549,705 (GRCm39) missense probably null 1.00
R2328:Cyfip1 UTSW 7 55,544,739 (GRCm39) missense possibly damaging 0.87
R2518:Cyfip1 UTSW 7 55,578,032 (GRCm39) missense probably damaging 1.00
R2963:Cyfip1 UTSW 7 55,544,783 (GRCm39) missense probably damaging 0.99
R4271:Cyfip1 UTSW 7 55,528,849 (GRCm39) missense probably benign 0.02
R4435:Cyfip1 UTSW 7 55,549,789 (GRCm39) missense probably damaging 0.99
R4640:Cyfip1 UTSW 7 55,563,199 (GRCm39) missense possibly damaging 0.92
R4676:Cyfip1 UTSW 7 55,524,761 (GRCm39) missense probably damaging 0.99
R4887:Cyfip1 UTSW 7 55,521,816 (GRCm39) missense probably damaging 1.00
R5085:Cyfip1 UTSW 7 55,548,083 (GRCm39) missense probably benign 0.33
R5238:Cyfip1 UTSW 7 55,541,779 (GRCm39) missense probably benign
R5244:Cyfip1 UTSW 7 55,574,947 (GRCm39) missense probably damaging 1.00
R5288:Cyfip1 UTSW 7 55,574,883 (GRCm39) missense possibly damaging 0.60
R5294:Cyfip1 UTSW 7 55,523,231 (GRCm39) missense possibly damaging 0.88
R5552:Cyfip1 UTSW 7 55,521,855 (GRCm39) missense possibly damaging 0.94
R5558:Cyfip1 UTSW 7 55,541,749 (GRCm39) missense possibly damaging 0.71
R5667:Cyfip1 UTSW 7 55,523,478 (GRCm39) missense probably benign 0.19
R5819:Cyfip1 UTSW 7 55,528,899 (GRCm39) missense probably damaging 1.00
R5859:Cyfip1 UTSW 7 55,574,929 (GRCm39) missense probably damaging 1.00
R5867:Cyfip1 UTSW 7 55,576,061 (GRCm39) missense probably damaging 1.00
R5868:Cyfip1 UTSW 7 55,576,061 (GRCm39) missense probably damaging 1.00
R5944:Cyfip1 UTSW 7 55,521,878 (GRCm39) missense probably damaging 0.98
R6124:Cyfip1 UTSW 7 55,547,691 (GRCm39) missense probably benign 0.12
R6131:Cyfip1 UTSW 7 55,523,228 (GRCm39) missense possibly damaging 0.79
R6219:Cyfip1 UTSW 7 55,558,189 (GRCm39) missense possibly damaging 0.52
R6243:Cyfip1 UTSW 7 55,550,277 (GRCm39) missense probably damaging 1.00
R6669:Cyfip1 UTSW 7 55,549,809 (GRCm39) missense probably damaging 0.99
R6869:Cyfip1 UTSW 7 55,557,113 (GRCm39) missense possibly damaging 0.73
R7014:Cyfip1 UTSW 7 55,569,241 (GRCm39) missense probably benign 0.34
R7224:Cyfip1 UTSW 7 55,577,937 (GRCm39) frame shift probably null
R7225:Cyfip1 UTSW 7 55,577,937 (GRCm39) frame shift probably null
R7305:Cyfip1 UTSW 7 55,577,937 (GRCm39) frame shift probably null
R7336:Cyfip1 UTSW 7 55,576,148 (GRCm39) missense possibly damaging 0.96
R7429:Cyfip1 UTSW 7 55,550,341 (GRCm39) missense probably damaging 1.00
R7430:Cyfip1 UTSW 7 55,550,341 (GRCm39) missense probably damaging 1.00
R7469:Cyfip1 UTSW 7 55,527,468 (GRCm39) missense possibly damaging 0.91
R7568:Cyfip1 UTSW 7 55,521,997 (GRCm39) splice site probably null
R7830:Cyfip1 UTSW 7 55,523,210 (GRCm39) missense probably damaging 1.00
R7839:Cyfip1 UTSW 7 55,536,483 (GRCm39) missense probably damaging 0.98
R7859:Cyfip1 UTSW 7 55,549,774 (GRCm39) missense probably damaging 1.00
R7965:Cyfip1 UTSW 7 55,546,523 (GRCm39) missense possibly damaging 0.78
R8176:Cyfip1 UTSW 7 55,574,175 (GRCm39) missense probably benign 0.12
R8386:Cyfip1 UTSW 7 55,527,488 (GRCm39) missense probably damaging 1.00
R8388:Cyfip1 UTSW 7 55,521,873 (GRCm39) missense probably damaging 1.00
R8444:Cyfip1 UTSW 7 55,521,902 (GRCm39) missense possibly damaging 0.64
R8845:Cyfip1 UTSW 7 55,579,834 (GRCm39) missense probably benign 0.00
R8986:Cyfip1 UTSW 7 55,558,140 (GRCm39) missense probably damaging 1.00
R9197:Cyfip1 UTSW 7 55,554,222 (GRCm39) missense probably null 0.31
R9214:Cyfip1 UTSW 7 55,523,273 (GRCm39) critical splice donor site probably null
R9228:Cyfip1 UTSW 7 55,549,758 (GRCm39) missense probably damaging 1.00
R9269:Cyfip1 UTSW 7 55,557,179 (GRCm39) nonsense probably null
R9336:Cyfip1 UTSW 7 55,554,189 (GRCm39) missense probably benign 0.01
R9599:Cyfip1 UTSW 7 55,563,277 (GRCm39) critical splice donor site probably null
R9622:Cyfip1 UTSW 7 55,528,853 (GRCm39) missense possibly damaging 0.87
X0018:Cyfip1 UTSW 7 55,549,773 (GRCm39) missense probably damaging 0.98
X0028:Cyfip1 UTSW 7 55,557,178 (GRCm39) missense probably damaging 1.00
Z1088:Cyfip1 UTSW 7 55,524,800 (GRCm39) missense probably damaging 0.99
Z1177:Cyfip1 UTSW 7 55,548,068 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CGTCTCCAGTGCCCTTGAAAGAAAG -3'
(R):5'- CCATGCTAGAGTGGACAGTTGCTTG -3'

Sequencing Primer
(F):5'- GGGAAGAGAAGCCCATGTGAC -3'
(R):5'- GTATCTTGCAATGCCAGTGAC -3'
Posted On 2014-05-09