Incidental Mutation 'PIT4445001:Sh3rf2'
ID 555440
Institutional Source Beutler Lab
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 # PIT4445001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 42186732-42292025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42286229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 574 (V574A)
Ref Sequence ENSEMBL: ENSMUSP00000071896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]
AlphaFold Q8BZT2
PDB Structure Solution structure of the SH3 domain of the mouse hypothetical protein SH3RF2 [SOLUTION NMR]
The solution structure of the first SH3 domain of mouse SH3 domain containing ring finger 2 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000072008
AA Change: V574A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: V574A

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 benign
Transcript: ENSMUST00000074679
AA Change: V542A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: V542A

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
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D 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
IGL02369:Sh3rf2 APN 18 42,289,222 (GRCm39) nonsense 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
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
Predicted Primers PCR Primer
(F):5'- GGACACATTGCAACCTACATGC -3'
(R):5'- CTGGTTTCACGAGGATGGAG -3'

Sequencing Primer
(F):5'- AATGATGTCATCTACCCTATTGCTG -3'
(R):5'- TTCACGAGGATGGAGGGTGG -3'
Posted On 2019-06-07