Incidental Mutation 'R7691:Ift25'
ID 593384
Institutional Source Beutler Lab
Gene Symbol Ift25
Ensembl Gene ENSMUSG00000063172
Gene Name intraflagellar transport 25
Synonyms 2900042B11Rik, Hspb11
MMRRC Submission 045755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 107110889-107137135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107130886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 59 (I59V)
Ref Sequence ENSEMBL: ENSMUSP00000048810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046558] [ENSMUST00000106749] [ENSMUST00000152717]
AlphaFold Q9D6H2
Predicted Effect probably benign
Transcript: ENSMUST00000046558
AA Change: I59V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000048810
Gene: ENSMUSG00000063172
AA Change: I59V

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106749
AA Change: I59V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000102360
Gene: ENSMUSG00000063172
AA Change: I59V

DomainStartEndE-ValueType
PDB:1XPW|A 1 142 2e-88 PDB
SCOP:d1jhja_ 15 120 5e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152717
AA Change: I59V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000118617
Gene: ENSMUSG00000063172
AA Change: I59V

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show fetal growth retardation and complete neonatal death due to severe structural heart defects. Omphalocele, polydactyly, left pulmonary isomerism, and skeletal defects such as micrognathia, cleft palate, malaligned sternal vertebrae, and a small rib cage are often observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 A T 6: 92,773,219 (GRCm39) C1763S probably damaging Het
Adcy3 T C 12: 4,256,540 (GRCm39) V782A probably benign Het
Arhgef17 G A 7: 100,578,849 (GRCm39) R700C probably damaging Het
Atxn2l T C 7: 126,091,782 (GRCm39) probably null Het
Bach2 A G 4: 32,580,271 (GRCm39) E832G probably damaging Het
Brpf3 G C 17: 29,025,805 (GRCm39) A293P probably damaging Het
Cacfd1 T C 2: 26,900,106 (GRCm39) L36P probably damaging Het
Camsap2 T C 1: 136,220,742 (GRCm39) E268G probably damaging Het
Ccnjl A T 11: 43,474,028 (GRCm39) Q201L probably benign Het
Cdan1 A G 2: 120,560,048 (GRCm39) V372A probably damaging Het
Cenpf C A 1: 189,390,404 (GRCm39) E1143* probably null Het
Colgalt1 A T 8: 72,073,398 (GRCm39) M340L probably benign Het
Crybg3 A G 16: 59,376,497 (GRCm39) Y1586H not run Het
Csmd3 A G 15: 47,604,569 (GRCm39) I1058T Het
Dock1 G A 7: 134,739,886 (GRCm39) probably null Het
Dzank1 G A 2: 144,348,091 (GRCm39) T225I probably damaging Het
Eif3c G A 7: 126,151,162 (GRCm39) R721W possibly damaging Het
Fdps A G 3: 89,006,674 (GRCm39) V72A probably benign Het
Filip1l A G 16: 57,392,796 (GRCm39) N1128S probably benign Het
Fmnl2 T A 2: 52,991,510 (GRCm39) Y342N unknown Het
Gria1 A T 11: 57,127,813 (GRCm39) I410F possibly damaging Het
Gsdmc4 C A 15: 63,765,640 (GRCm39) S303I probably damaging Het
Herc2 C T 7: 55,841,593 (GRCm39) P3491S probably benign Het
Lama2 T C 10: 27,084,389 (GRCm39) H927R possibly damaging Het
Lrrc8e T C 8: 4,284,534 (GRCm39) M253T probably damaging Het
Ltn1 G T 16: 87,195,574 (GRCm39) H1317Q probably damaging Het
Map6 C T 7: 98,985,499 (GRCm39) L671F possibly damaging Het
Mki67 C T 7: 135,303,721 (GRCm39) V716I not run Het
Mllt10 A G 2: 18,208,422 (GRCm39) S694G possibly damaging Het
Mllt10 G C 2: 18,208,423 (GRCm39) S694T probably null Het
Mtcl1 A G 17: 66,687,352 (GRCm39) L518S probably damaging Het
Or2ad1 G A 13: 21,327,140 (GRCm39) A29V probably benign Het
Pcdh10 G T 3: 45,335,632 (GRCm39) D649Y probably damaging Het
Pdgfrb C T 18: 61,194,340 (GRCm39) T39M probably benign Het
Pls1 T C 9: 95,655,726 (GRCm39) E342G probably benign Het
Pon1 C T 6: 5,175,819 (GRCm39) V235I probably benign Het
Rhobtb3 A T 13: 76,027,056 (GRCm39) V439E probably damaging Het
Septin8 A G 11: 53,428,414 (GRCm39) T355A probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Ssc5d C T 7: 4,947,168 (GRCm39) T1174I probably benign Het
Sspo A T 6: 48,461,163 (GRCm39) T3535S probably benign Het
Stk39 A G 2: 68,301,983 (GRCm39) V80A probably damaging Het
Sult2b1 T C 7: 45,384,708 (GRCm39) I123V probably benign Het
Sv2a A T 3: 96,095,727 (GRCm39) I348F probably benign Het
Taar8b T A 10: 23,967,436 (GRCm39) R253* probably null Het
Tbc1d4 T C 14: 101,745,077 (GRCm39) K183R probably damaging Het
Tet2 T A 3: 133,192,610 (GRCm39) D608V probably damaging Het
Tnfsf14 T A 17: 57,501,024 (GRCm39) T16S possibly damaging Het
Togaram2 A G 17: 72,023,405 (GRCm39) T774A probably benign Het
Tshr C A 12: 91,464,515 (GRCm39) A87E probably benign Het
Tsn T C 1: 118,237,505 (GRCm39) D53G probably benign Het
Usp37 TC T 1: 74,525,919 (GRCm39) probably null Het
Vav2 T A 2: 27,187,750 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,109 (GRCm39) I677F probably damaging Het
Vmn2r65 T A 7: 84,592,851 (GRCm39) Y452F probably benign Het
Vmn2r79 A G 7: 86,687,111 (GRCm39) R831G probably damaging Het
Zfp821 T C 8: 110,447,871 (GRCm39) S71P probably damaging Het
Zwilch T A 9: 64,063,373 (GRCm39) I286F probably benign Het
Other mutations in Ift25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Ift25 APN 4 107,132,449 (GRCm39) missense probably benign 0.02
IGL02833:Ift25 APN 4 107,132,492 (GRCm39) splice site probably benign
IGL02885:Ift25 APN 4 107,130,866 (GRCm39) missense possibly damaging 0.67
IGL02978:Ift25 APN 4 107,132,471 (GRCm39) missense probably damaging 1.00
R2076:Ift25 UTSW 4 107,136,964 (GRCm39) missense possibly damaging 0.92
R3402:Ift25 UTSW 4 107,130,803 (GRCm39) splice site probably null
R5286:Ift25 UTSW 4 107,136,998 (GRCm39) missense probably damaging 0.97
R7982:Ift25 UTSW 4 107,132,480 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- GGCATCAGCTCTCTTTCAGG -3'
(R):5'- GCAACTTAAGAGGACTAATTGTGC -3'

Sequencing Primer
(F):5'- GGGCTATATAGAGAAACCCTGTCTC -3'
(R):5'- GCAGTTAGCGCAGACTCG -3'
Posted On 2019-11-12