Incidental Mutation 'IGL02369:Sh3rf2'
ID 290840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3rf2
Ensembl Gene ENSMUSG00000057719
Gene Name SH3 domain containing ring finger 2
Synonyms 9130023G24Rik, RNF158
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02369
Quality Score
Status
Chromosome 18
Chromosomal Location 42186732-42292025 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 42289222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 681 (S681*)
Ref Sequence ENSEMBL: ENSMUSP00000074247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]
AlphaFold Q8BZT2
Predicted Effect probably null
Transcript: ENSMUST00000072008
AA Change: S713*
SMART Domains Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: S713*

DomainStartEndE-ValueType
RING 12 52 7.38e-8 SMART
low complexity region 63 73 N/A INTRINSIC
SH3 128 183 4.66e-17 SMART
SH3 190 251 1.45e-13 SMART
low complexity region 357 366 N/A INTRINSIC
SH3 385 442 3.27e-12 SMART
low complexity region 500 514 N/A INTRINSIC
low complexity region 614 631 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000074679
AA Change: S681*
SMART Domains Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: S681*

DomainStartEndE-ValueType
RING 12 52 7.38e-8 SMART
low complexity region 63 73 N/A INTRINSIC
SH3 128 183 4.66e-17 SMART
low complexity region 325 334 N/A INTRINSIC
SH3 353 410 3.27e-12 SMART
low complexity region 468 482 N/A INTRINSIC
low complexity region 582 599 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132681
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 G T 6: 39,551,678 (GRCm39) L148F probably damaging Het
Arhgef10 G A 8: 15,047,551 (GRCm39) R1138H probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atp6v0b T A 4: 117,742,850 (GRCm39) I79F possibly damaging Het
Atp8b5 A T 4: 43,334,205 (GRCm39) N324Y probably benign Het
Bach2 A G 4: 32,579,975 (GRCm39) I610M possibly damaging Het
Casr G T 16: 36,315,051 (GRCm39) D929E probably benign Het
Cbln2 T C 18: 86,731,479 (GRCm39) S96P probably damaging Het
Cpxm1 T C 2: 130,238,344 (GRCm39) K73E probably damaging Het
Erap1 A G 13: 74,814,645 (GRCm39) Y457C probably benign Het
Etl4 T C 2: 20,535,000 (GRCm39) Y152H probably damaging Het
Fbh1 A T 2: 11,751,969 (GRCm39) S910T possibly damaging Het
Gm10142 T C 10: 77,551,947 (GRCm39) S103P probably benign Het
Gm12886 A G 4: 121,280,229 (GRCm39) S16P unknown Het
Gpr146 T C 5: 139,378,443 (GRCm39) Y82H probably benign Het
Herc1 C T 9: 66,399,293 (GRCm39) Q4282* probably null Het
Htr2a A T 14: 74,943,722 (GRCm39) E434V probably benign Het
Iqsec3 T C 6: 121,389,893 (GRCm39) probably benign Het
Islr A C 9: 58,064,907 (GRCm39) V200G probably damaging Het
Katnal1 T C 5: 148,815,737 (GRCm39) D400G probably benign Het
Lonrf2 A G 1: 38,850,913 (GRCm39) probably benign Het
Lrp2 A T 2: 69,294,980 (GRCm39) L3446Q probably damaging Het
Med12l G A 3: 59,164,794 (GRCm39) V1425I probably benign Het
Myh13 T C 11: 67,251,100 (GRCm39) probably benign Het
Nutm2 T G 13: 50,623,944 (GRCm39) S214A probably benign Het
Or10aa1 T A 1: 173,869,539 (GRCm39) W8R possibly damaging Het
Or2h1b A G 17: 37,462,665 (GRCm39) F66S probably damaging Het
Or5b99 T C 19: 12,977,072 (GRCm39) S241P probably damaging Het
Or6c33 C A 10: 129,853,425 (GRCm39) A65E possibly damaging Het
Pax5 A T 4: 44,691,919 (GRCm39) M109K probably damaging Het
Pfkfb2 G A 1: 130,628,572 (GRCm39) R345W probably damaging Het
Pkd1l3 A G 8: 110,342,977 (GRCm39) D105G unknown Het
Prdm11 A G 2: 92,805,864 (GRCm39) V362A probably benign Het
Prex2 T C 1: 11,171,393 (GRCm39) probably null Het
Prl8a1 T C 13: 27,760,924 (GRCm39) T103A possibly damaging Het
Rgl1 T C 1: 152,409,357 (GRCm39) I493V probably damaging Het
Rimkla A G 4: 119,335,146 (GRCm39) V79A possibly damaging Het
Ryr2 A T 13: 11,634,382 (GRCm39) S3791R possibly damaging Het
Stmnd1 T A 13: 46,439,029 (GRCm39) I87K probably benign Het
Tspan8 C A 10: 115,675,782 (GRCm39) F149L probably benign Het
Tspan8 A C 10: 115,675,783 (GRCm39) K150Q probably benign Het
Ttn T C 2: 76,772,720 (GRCm39) E2425G probably damaging Het
Other mutations in Sh3rf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Sh3rf2 APN 18 42,244,283 (GRCm39) missense probably benign 0.00
IGL01012:Sh3rf2 APN 18 42,187,257 (GRCm39) missense possibly damaging 0.50
IGL01286:Sh3rf2 APN 18 42,272,676 (GRCm39) critical splice donor site probably null
IGL02563:Sh3rf2 APN 18 42,289,207 (GRCm39) missense probably damaging 0.99
BB004:Sh3rf2 UTSW 18 42,244,487 (GRCm39) missense probably benign
BB014:Sh3rf2 UTSW 18 42,244,487 (GRCm39) missense probably benign
PIT4445001:Sh3rf2 UTSW 18 42,286,229 (GRCm39) missense probably benign 0.00
R0141:Sh3rf2 UTSW 18 42,289,122 (GRCm39) missense probably benign 0.02
R0270:Sh3rf2 UTSW 18 42,237,146 (GRCm39) missense probably damaging 0.99
R1447:Sh3rf2 UTSW 18 42,234,736 (GRCm39) missense probably benign 0.00
R1491:Sh3rf2 UTSW 18 42,187,004 (GRCm39) missense probably damaging 0.99
R1539:Sh3rf2 UTSW 18 42,282,887 (GRCm39) missense probably damaging 1.00
R1595:Sh3rf2 UTSW 18 42,244,353 (GRCm39) missense probably damaging 1.00
R1749:Sh3rf2 UTSW 18 42,286,359 (GRCm39) missense probably damaging 1.00
R1864:Sh3rf2 UTSW 18 42,187,046 (GRCm39) missense probably damaging 0.99
R1942:Sh3rf2 UTSW 18 42,282,689 (GRCm39) missense probably damaging 1.00
R1998:Sh3rf2 UTSW 18 42,274,148 (GRCm39) missense probably damaging 0.99
R2331:Sh3rf2 UTSW 18 42,186,928 (GRCm39) missense probably benign 0.04
R2680:Sh3rf2 UTSW 18 42,234,715 (GRCm39) missense probably damaging 0.98
R2938:Sh3rf2 UTSW 18 42,282,789 (GRCm39) missense probably benign 0.09
R2940:Sh3rf2 UTSW 18 42,244,505 (GRCm39) critical splice donor site probably null
R3753:Sh3rf2 UTSW 18 42,244,373 (GRCm39) missense probably damaging 1.00
R3861:Sh3rf2 UTSW 18 42,286,384 (GRCm39) missense probably damaging 1.00
R4322:Sh3rf2 UTSW 18 42,244,464 (GRCm39) missense probably damaging 1.00
R5076:Sh3rf2 UTSW 18 42,186,989 (GRCm39) missense probably damaging 1.00
R5169:Sh3rf2 UTSW 18 42,286,126 (GRCm39) missense probably benign 0.00
R5228:Sh3rf2 UTSW 18 42,286,246 (GRCm39) missense possibly damaging 0.69
R5437:Sh3rf2 UTSW 18 42,274,079 (GRCm39) missense probably benign 0.44
R5792:Sh3rf2 UTSW 18 42,244,203 (GRCm39) missense probably damaging 0.99
R5820:Sh3rf2 UTSW 18 42,274,112 (GRCm39) missense possibly damaging 0.94
R6159:Sh3rf2 UTSW 18 42,289,200 (GRCm39) missense probably damaging 0.96
R6366:Sh3rf2 UTSW 18 42,286,130 (GRCm39) missense probably benign 0.00
R6640:Sh3rf2 UTSW 18 42,234,705 (GRCm39) missense probably damaging 1.00
R6897:Sh3rf2 UTSW 18 42,234,670 (GRCm39) missense possibly damaging 0.91
R6995:Sh3rf2 UTSW 18 42,234,606 (GRCm39) missense probably damaging 1.00
R7097:Sh3rf2 UTSW 18 42,237,227 (GRCm39) splice site probably null
R7122:Sh3rf2 UTSW 18 42,237,227 (GRCm39) splice site probably null
R7432:Sh3rf2 UTSW 18 42,187,091 (GRCm39) missense probably damaging 0.99
R7444:Sh3rf2 UTSW 18 42,234,604 (GRCm39) missense probably damaging 1.00
R7654:Sh3rf2 UTSW 18 42,237,173 (GRCm39) missense probably damaging 1.00
R7703:Sh3rf2 UTSW 18 42,289,201 (GRCm39) missense probably benign 0.04
R7732:Sh3rf2 UTSW 18 42,234,753 (GRCm39) missense probably damaging 1.00
R7835:Sh3rf2 UTSW 18 42,244,235 (GRCm39) missense probably benign 0.25
R7927:Sh3rf2 UTSW 18 42,244,487 (GRCm39) missense probably benign
R8053:Sh3rf2 UTSW 18 42,286,087 (GRCm39) missense probably damaging 1.00
R8144:Sh3rf2 UTSW 18 42,274,124 (GRCm39) missense probably benign 0.01
R8343:Sh3rf2 UTSW 18 42,244,493 (GRCm39) missense probably damaging 0.99
R9145:Sh3rf2 UTSW 18 42,282,746 (GRCm39) missense
R9328:Sh3rf2 UTSW 18 42,274,161 (GRCm39) missense probably benign 0.08
R9570:Sh3rf2 UTSW 18 42,272,620 (GRCm39) missense possibly damaging 0.75
R9668:Sh3rf2 UTSW 18 42,244,347 (GRCm39) missense probably benign 0.31
R9676:Sh3rf2 UTSW 18 42,282,860 (GRCm39) missense probably benign
Posted On 2015-04-16