Incidental Mutation 'R7840:Yipf3'
ID 606258
Institutional Source Beutler Lab
Gene Symbol Yipf3
Ensembl Gene ENSMUSG00000071074
Gene Name Yip1 domain family, member 3
Synonyms D17Wsu94e
MMRRC Submission 045894-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R7840 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46559019-46563474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46561790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 199 (I199T)
Ref Sequence ENSEMBL: ENSMUSP00000092897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000095262] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000124655] [ENSMUST00000142706] [ENSMUST00000173232] [ENSMUST00000173349]
AlphaFold Q3UDR8
Predicted Effect probably benign
Transcript: ENSMUST00000087026
SMART Domains Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
RPOLD 60 339 4.53e-124 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095262
SMART Domains Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073

DomainStartEndE-ValueType
LRR 27 54 2.42e1 SMART
LRR 84 111 3.47e1 SMART
LRR 112 139 1.84e0 SMART
LRR 143 171 1.66e2 SMART
LRR 172 199 5.41e0 SMART
LRR 200 227 3.54e0 SMART
LRR 229 256 5.48e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095263
AA Change: I199T

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074
AA Change: I199T

DomainStartEndE-ValueType
low complexity region 59 75 N/A INTRINSIC
transmembrane domain 146 168 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 212 234 N/A INTRINSIC
transmembrane domain 238 260 N/A INTRINSIC
transmembrane domain 272 294 N/A INTRINSIC
low complexity region 320 332 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123311
AA Change: I104T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074
AA Change: I104T

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
transmembrane domain 88 110 N/A INTRINSIC
transmembrane domain 117 139 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124655
SMART Domains Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
RPOLD 1 253 2.14e-93 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074
AA Change: I109T

DomainStartEndE-ValueType
Pfam:Yip1 30 178 4.6e-13 PFAM
low complexity region 189 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142706
SMART Domains Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
RPOLD 60 255 9.13e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173232
SMART Domains Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
Pfam:RNA_pol_L 61 100 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173349
SMART Domains Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
RPOLD 42 170 2.3e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,074,689 (GRCm39) N577S probably benign Het
Ang4 A G 14: 52,001,529 (GRCm39) S140P probably damaging Het
Ankdd1b T C 13: 96,556,306 (GRCm39) probably null Het
Anln G T 9: 22,274,019 (GRCm39) A606D probably benign Het
Ano5 T G 7: 51,237,480 (GRCm39) V768G possibly damaging Het
Ccdc180 A T 4: 45,900,461 (GRCm39) Y275F possibly damaging Het
Chpf T C 1: 75,453,271 (GRCm39) Y334C probably damaging Het
Chrdl2 T C 7: 99,682,863 (GRCm39) L381S probably damaging Het
Cibar2 T C 8: 120,893,372 (GRCm39) D273G probably benign Het
Cox20 A T 1: 178,150,126 (GRCm39) Y100F probably benign Het
Dbn1 T C 13: 55,623,322 (GRCm39) D433G possibly damaging Het
Dclre1a A T 19: 56,519,684 (GRCm39) I983N probably damaging Het
Dok6 A T 18: 89,578,182 (GRCm39) H78Q probably benign Het
Efcab3 G A 11: 104,624,539 (GRCm39) D878N probably benign Het
Fpr1 A T 17: 18,097,634 (GRCm39) F118L probably benign Het
Fscn3 A G 6: 28,430,175 (GRCm39) Y115C probably damaging Het
Gabra4 A C 5: 71,798,256 (GRCm39) probably null Het
Gm45861 T C 8: 28,072,751 (GRCm39) V1290A unknown Het
Hivep1 T C 13: 42,308,828 (GRCm39) V356A probably benign Het
Ikbip T C 10: 90,937,617 (GRCm39) Y97H possibly damaging Het
Il10 A G 1: 130,947,805 (GRCm39) T53A probably benign Het
Inpp5f T C 7: 128,296,526 (GRCm39) V959A probably benign Het
Insr T C 8: 3,308,415 (GRCm39) E207G probably benign Het
Kndc1 T A 7: 139,503,731 (GRCm39) S1012T probably damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Ksr2 T C 5: 117,693,329 (GRCm39) V259A probably benign Het
Lox A T 18: 52,658,194 (GRCm39) Y326* probably null Het
Lpin2 C A 17: 71,537,269 (GRCm39) T272N probably benign Het
Lrp2 C T 2: 69,295,128 (GRCm39) E3397K probably damaging Het
Megf11 G A 9: 64,602,709 (GRCm39) C850Y possibly damaging Het
Morc1 T C 16: 48,319,147 (GRCm39) F284L probably benign Het
Moxd2 T A 6: 40,862,378 (GRCm39) D147V possibly damaging Het
Mrpl21 T C 19: 3,337,752 (GRCm39) L153P probably damaging Het
Naip2 T C 13: 100,280,917 (GRCm39) T1432A probably benign Het
Naip6 T A 13: 100,451,979 (GRCm39) D211V probably damaging Het
Ncoa5 T C 2: 164,854,816 (GRCm39) H102R possibly damaging Het
Ndel1 A T 11: 68,720,806 (GRCm39) C293* probably null Het
Ninl A T 2: 150,808,016 (GRCm39) M82K probably benign Het
Nrcam G A 12: 44,587,858 (GRCm39) probably null Het
Nup210l A T 3: 90,030,036 (GRCm39) I250L probably benign Het
Obscn T C 11: 58,968,776 (GRCm39) E2532G possibly damaging Het
Or1e1 C A 11: 73,244,585 (GRCm39) A2E probably benign Het
Or5v1 G T 17: 37,809,868 (GRCm39) G109C probably damaging Het
Or8j3c A G 2: 86,253,583 (GRCm39) F146L probably benign Het
Osgin1 G A 8: 120,171,773 (GRCm39) S189N possibly damaging Het
Otud7b A G 3: 96,062,690 (GRCm39) E643G probably damaging Het
Phldb2 T A 16: 45,571,727 (GRCm39) T1222S probably damaging Het
Pwp1 C T 10: 85,723,914 (GRCm39) R472W probably damaging Het
Rad21 T C 15: 51,836,538 (GRCm39) Y211C probably damaging Het
Rexo1 A G 10: 80,386,572 (GRCm39) V162A probably benign Het
Rtl1 C T 12: 109,560,589 (GRCm39) V417I probably benign Het
Setbp1 G A 18: 78,826,639 (GRCm39) P1325S probably benign Het
Shld1 A G 2: 132,592,510 (GRCm39) T186A probably damaging Het
Shld2 A G 14: 33,959,523 (GRCm39) Y820H probably damaging Het
Skint7 G T 4: 111,839,423 (GRCm39) C239F probably benign Het
Slc25a1 A G 16: 17,744,138 (GRCm39) L221P probably benign Het
Snrnp70 T A 7: 45,026,214 (GRCm39) D385V unknown Het
Sp7 A C 15: 102,267,533 (GRCm39) V109G probably benign Het
Syne1 A T 10: 5,082,078 (GRCm39) Y849N probably damaging Het
Tas2r108 T C 6: 40,470,790 (GRCm39) F89L possibly damaging Het
Tcf3 C T 10: 80,246,301 (GRCm39) A581T possibly damaging Het
Tcta A G 9: 108,182,986 (GRCm39) L53P probably damaging Het
Traf3ip2 C G 10: 39,502,451 (GRCm39) Q200E probably damaging Het
Trgc1 A T 13: 19,400,691 (GRCm39) Y140F Het
Tyk2 A T 9: 21,036,263 (GRCm39) C75S probably damaging Het
Ugt3a1 G A 15: 9,311,903 (GRCm39) G382R probably damaging Het
Upp2 G T 2: 58,664,127 (GRCm39) probably null Het
Vmn1r212 A T 13: 23,067,323 (GRCm39) F337I unknown Het
Vmn1r58 T C 7: 5,414,242 (GRCm39) probably benign Het
Vps13d A T 4: 144,830,246 (GRCm39) V2856D Het
Wdr37 A C 13: 8,886,911 (GRCm39) L292R probably damaging Het
Zdhhc23 A G 16: 43,791,907 (GRCm39) S289P possibly damaging Het
Zfp229 A T 17: 21,965,131 (GRCm39) K454* probably null Het
Other mutations in Yipf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Yipf3 APN 17 46,561,383 (GRCm39) critical splice donor site probably null
IGL02469:Yipf3 APN 17 46,561,384 (GRCm39) critical splice donor site probably null
IGL02836:Yipf3 APN 17 46,562,520 (GRCm39) missense possibly damaging 0.63
R0077:Yipf3 UTSW 17 46,562,503 (GRCm39) missense probably benign 0.42
R0334:Yipf3 UTSW 17 46,559,238 (GRCm39) missense possibly damaging 0.93
R0398:Yipf3 UTSW 17 46,562,411 (GRCm39) missense possibly damaging 0.86
R1163:Yipf3 UTSW 17 46,562,155 (GRCm39) critical splice donor site probably null
R1398:Yipf3 UTSW 17 46,562,372 (GRCm39) missense probably damaging 1.00
R1556:Yipf3 UTSW 17 46,561,793 (GRCm39) missense probably damaging 1.00
R1588:Yipf3 UTSW 17 46,561,787 (GRCm39) missense possibly damaging 0.96
R7238:Yipf3 UTSW 17 46,562,585 (GRCm39) missense probably benign
R7347:Yipf3 UTSW 17 46,561,753 (GRCm39) missense probably damaging 0.99
R7355:Yipf3 UTSW 17 46,561,566 (GRCm39) missense probably damaging 0.97
R7366:Yipf3 UTSW 17 46,559,855 (GRCm39) missense possibly damaging 0.93
R9124:Yipf3 UTSW 17 46,559,895 (GRCm39) missense probably benign
R9223:Yipf3 UTSW 17 46,559,798 (GRCm39) missense probably damaging 1.00
RF026:Yipf3 UTSW 17 46,559,898 (GRCm39) unclassified probably benign
RF035:Yipf3 UTSW 17 46,559,898 (GRCm39) unclassified probably benign
RF039:Yipf3 UTSW 17 46,559,898 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TATCGTAAGCAGGACACCGG -3'
(R):5'- CCGAAGTGGGGTATTTTAGCTC -3'

Sequencing Primer
(F):5'- TAAGCAGGACACCGGCCTTAG -3'
(R):5'- GGGGTATTTTAGCTCGCTGC -3'
Posted On 2019-12-20