Incidental Mutation 'IGL02836:Yipf3'
ID 361670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yipf3
Ensembl Gene ENSMUSG00000071074
Gene Name Yip1 domain family, member 3
Synonyms D17Wsu94e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.606) question?
Stock # IGL02836
Quality Score
Status
Chromosome 17
Chromosomal Location 46559019-46563474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46562520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 308 (N308K)
Ref Sequence ENSEMBL: ENSMUSP00000092897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000095262] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000142706] [ENSMUST00000173349] [ENSMUST00000173232]
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 possibly damaging
Transcript: ENSMUST00000095263
AA Change: N308K

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074
AA Change: N308K

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 probably benign
Transcript: ENSMUST00000123311
SMART Domains Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074

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 noncoding transcript
Transcript: ENSMUST00000124126
Predicted Effect unknown
Transcript: ENSMUST00000127378
AA Change: T177K
SMART Domains Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074
AA Change: T177K

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 noncoding transcript
Transcript: ENSMUST00000145371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174392
Predicted Effect probably benign
Transcript: ENSMUST00000173349
SMART Domains Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
RPOLD 42 170 2.3e-5 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,349,782 (GRCm39) N346K possibly damaging Het
Abca15 A G 7: 119,987,439 (GRCm39) M1242V probably benign Het
Abca6 T A 11: 110,139,374 (GRCm39) E33D probably damaging Het
Abca8a T C 11: 109,961,177 (GRCm39) K582E possibly damaging Het
Abcb6 A G 1: 75,154,646 (GRCm39) L263P probably damaging Het
Adamts2 A C 11: 50,678,106 (GRCm39) E795A probably damaging Het
Avil T A 10: 126,844,864 (GRCm39) I292N probably damaging Het
Cd300ld2 T C 11: 114,904,576 (GRCm39) D97G probably benign Het
Cfh A C 1: 140,030,137 (GRCm39) I912R probably damaging Het
Cyp26c1 A T 19: 37,675,604 (GRCm39) Q156L probably benign Het
Dhx57 T C 17: 80,574,978 (GRCm39) I614V probably damaging Het
Dip2c T A 13: 9,660,826 (GRCm39) S896T probably damaging Het
Dmtn G T 14: 70,853,518 (GRCm39) P97Q probably damaging Het
Dock6 A T 9: 21,713,160 (GRCm39) V1931E probably damaging Het
Dpep2 C A 8: 106,717,227 (GRCm39) probably null Het
Dsg1c T A 18: 20,400,986 (GRCm39) L163Q probably benign Het
Esyt3 A G 9: 99,202,960 (GRCm39) probably benign Het
Fcgbp T A 7: 27,816,783 (GRCm39) I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,403,307 (GRCm39) D18G probably benign Het
Fras1 T C 5: 96,682,725 (GRCm39) V74A possibly damaging Het
Frem3 T C 8: 81,341,010 (GRCm39) V1101A probably benign Het
Fut8 T A 12: 77,496,987 (GRCm39) V399E probably benign Het
Galntl5 G T 5: 25,391,237 (GRCm39) K45N probably benign Het
Gbe1 A G 16: 70,357,983 (GRCm39) Y669C possibly damaging Het
Gcnt1 T C 19: 17,307,493 (GRCm39) I77M probably benign Het
Itprid1 T A 6: 55,875,075 (GRCm39) W342R probably damaging Het
Mark2 A G 19: 7,255,405 (GRCm39) probably null Het
Muc2 A T 7: 141,300,450 (GRCm39) probably benign Het
Nacc2 C T 2: 25,980,329 (GRCm39) V36I probably damaging Het
Nphp1 T C 2: 127,611,543 (GRCm39) I268V probably benign Het
Oosp3 A G 19: 11,678,332 (GRCm39) I5V probably benign Het
Or9m1 T G 2: 87,733,724 (GRCm39) T99P possibly damaging Het
Pex7 A G 10: 19,769,990 (GRCm39) probably benign Het
Prr14l T C 5: 32,988,440 (GRCm39) K352E probably benign Het
Rheb T A 5: 25,008,709 (GRCm39) I170F probably benign Het
Rpgrip1 A G 14: 52,382,714 (GRCm39) probably null Het
Rps2 T A 17: 24,939,650 (GRCm39) L107Q probably damaging Het
Rrp1 A T 10: 78,240,874 (GRCm39) probably benign Het
Rtcb A T 10: 85,779,806 (GRCm39) V288D possibly damaging Het
Sec14l3 T C 11: 4,020,084 (GRCm39) F174L probably benign Het
Slc28a1 G A 7: 80,775,909 (GRCm39) V202M probably damaging Het
Slc44a3 A T 3: 121,325,366 (GRCm39) C32S probably damaging Het
Syne1 G A 10: 5,359,875 (GRCm39) probably benign Het
Synrg C A 11: 83,892,804 (GRCm39) probably benign Het
Tmem219 A T 7: 126,488,121 (GRCm39) F265I probably benign Het
Tmem94 T C 11: 115,683,765 (GRCm39) I726T probably damaging Het
Trim37 T C 11: 87,087,785 (GRCm39) M632T probably benign Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Uvrag A G 7: 98,628,984 (GRCm39) V361A possibly damaging Het
Zfp438 A G 18: 5,245,427 (GRCm39) probably benign Het
Zmiz1 T A 14: 25,657,166 (GRCm39) probably benign Het
Zranb3 A G 1: 127,888,562 (GRCm39) V841A probably benign 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
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
R7840:Yipf3 UTSW 17 46,561,790 (GRCm39) missense probably benign 0.28
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
Posted On 2015-12-18