Incidental Mutation 'R5490:Yipf2'
ID 432045
Institutional Source Beutler Lab
Gene Symbol Yipf2
Ensembl Gene ENSMUSG00000032182
Gene Name Yip1 domain family, member 2
Synonyms 1300010K09Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21499978-21504124 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21503487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 20 (A20V)
Ref Sequence ENSEMBL: ENSMUSP00000136463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034700] [ENSMUST00000034703] [ENSMUST00000062125] [ENSMUST00000078572] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000180365] [ENSMUST00000130032] [ENSMUST00000213809]
AlphaFold Q99LP8
Predicted Effect probably benign
Transcript: ENSMUST00000034700
AA Change: A20V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182
AA Change: A20V

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034703
SMART Domains Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.1e-71 PFAM
Pfam:PRMT5 144 447 2.3e-16 PFAM
Pfam:MTS 166 308 2.7e-10 PFAM
Pfam:Methyltransf_9 168 318 1.1e-9 PFAM
Pfam:PrmA 173 287 2.2e-12 PFAM
Pfam:Methyltransf_31 183 325 7.4e-11 PFAM
Pfam:Methyltransf_18 185 290 5.1e-12 PFAM
Pfam:Methyltransf_26 186 287 5.3e-10 PFAM
Pfam:Methyltransf_11 190 287 8.5e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 562 576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062125
SMART Domains Protein: ENSMUSP00000058283
Gene: ENSMUSG00000048429

DomainStartEndE-ValueType
Pfam:DUF2366 26 192 2.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078572
AA Change: A20V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182
AA Change: A20V

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115394
SMART Domains Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 29 140 4.7e-63 PFAM
Pfam:PRMT5 145 447 4.1e-16 PFAM
Pfam:Methyltransf_9 168 318 1.4e-9 PFAM
Pfam:MTS 170 299 2.5e-9 PFAM
Pfam:PrmA 175 287 3.7e-12 PFAM
Pfam:Methyltransf_31 183 326 1.9e-10 PFAM
Pfam:Methyltransf_18 185 290 4e-9 PFAM
Pfam:Methyltransf_11 190 287 6.5e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 606 619 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115395
SMART Domains Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2e-71 PFAM
Pfam:PRMT5 144 447 2.1e-16 PFAM
Pfam:MTS 166 308 2.6e-10 PFAM
Pfam:Methyltransf_9 168 318 1.1e-9 PFAM
Pfam:PrmA 172 287 2.1e-12 PFAM
Pfam:Methyltransf_31 183 326 6.9e-11 PFAM
Pfam:Methyltransf_18 185 290 4.8e-12 PFAM
Pfam:Methyltransf_26 186 287 5e-10 PFAM
Pfam:Methyltransf_11 190 287 8.1e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 540 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180365
AA Change: A20V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182
AA Change: A20V

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132011
Predicted Effect probably benign
Transcript: ENSMUST00000130032
SMART Domains Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.8e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213809
Predicted Effect probably benign
Transcript: ENSMUST00000216160
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Yipf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Yipf2 APN 9 21,503,820 (GRCm39) splice site probably null
IGL02221:Yipf2 APN 9 21,502,764 (GRCm39) missense possibly damaging 0.60
IGL02559:Yipf2 APN 9 21,503,482 (GRCm39) missense probably damaging 0.96
IGL03055:Yipf2 UTSW 9 21,501,019 (GRCm39) missense probably benign 0.00
R0089:Yipf2 UTSW 9 21,503,262 (GRCm39) missense possibly damaging 0.89
R0113:Yipf2 UTSW 9 21,501,412 (GRCm39) missense probably damaging 0.98
R0725:Yipf2 UTSW 9 21,503,519 (GRCm39) splice site probably null
R2294:Yipf2 UTSW 9 21,501,177 (GRCm39) missense probably damaging 1.00
R3154:Yipf2 UTSW 9 21,501,197 (GRCm39) missense probably benign 0.01
R3428:Yipf2 UTSW 9 21,500,941 (GRCm39) intron probably benign
R4956:Yipf2 UTSW 9 21,503,204 (GRCm39) missense probably damaging 1.00
R5353:Yipf2 UTSW 9 21,503,228 (GRCm39) missense possibly damaging 0.66
R6599:Yipf2 UTSW 9 21,501,144 (GRCm39) missense probably damaging 0.98
R7050:Yipf2 UTSW 9 21,503,474 (GRCm39) missense probably benign 0.00
R7206:Yipf2 UTSW 9 21,501,657 (GRCm39) missense probably damaging 1.00
R8271:Yipf2 UTSW 9 21,501,291 (GRCm39) missense probably damaging 1.00
R9267:Yipf2 UTSW 9 21,501,489 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- CTCAGAACTTGCCTGCTCAG -3'
(R):5'- CAGCGTCCAATTCTGCACAG -3'

Sequencing Primer
(F):5'- CTGCTCAGCCAGGGTAAGAAC -3'
(R):5'- TTCTGCACAGGACCTAAATTGAATCC -3'
Posted On 2016-10-05