Incidental Mutation 'IGL01404:Sh3bgr'
ID 278385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3bgr
Ensembl Gene ENSMUSG00000040666
Gene Name SH3-binding domain glutamic acid-rich protein
Synonyms 5430437A18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01404
Quality Score
Status
Chromosome 16
Chromosomal Location 96001670-96030133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 96007690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 18 (K18N)
Ref Sequence ENSEMBL: ENSMUSP00000126581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048770] [ENSMUST00000129904] [ENSMUST00000166952] [ENSMUST00000171181]
AlphaFold Q9WUZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000048770
AA Change: K18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666
AA Change: K18N

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 1.9e-49 PFAM
low complexity region 120 138 N/A INTRINSIC
low complexity region 160 212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123728
AA Change: K18N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116232
Gene: ENSMUSG00000040666
AA Change: K18N

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 4.7e-50 PFAM
Pfam:Glutaredoxin 21 76 6.2e-7 PFAM
low complexity region 107 128 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129904
AA Change: K39N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666
AA Change: K39N

DomainStartEndE-ValueType
Pfam:SH3BGR 30 119 8.2e-43 PFAM
low complexity region 141 159 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000132424
AA Change: K9N
SMART Domains Protein: ENSMUSP00000120614
Gene: ENSMUSG00000040666
AA Change: K9N

DomainStartEndE-ValueType
Pfam:SH3BGR 1 90 7.2e-45 PFAM
Pfam:Glutaredoxin 13 68 4.8e-7 PFAM
low complexity region 97 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000157060
SMART Domains Protein: ENSMUSP00000116607
Gene: ENSMUSG00000040666

DomainStartEndE-ValueType
low complexity region 41 93 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166952
AA Change: K18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666
AA Change: K18N

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 1.9e-50 PFAM
Pfam:Glutaredoxin 21 76 8.7e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171181
AA Change: K18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666
AA Change: K18N

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 1.9e-49 PFAM
low complexity region 120 138 N/A INTRINSIC
low complexity region 160 212 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,211,152 (GRCm39) probably null Het
4921524L21Rik T C 18: 6,638,653 (GRCm39) S351P possibly damaging Het
Ablim3 A G 18: 62,004,754 (GRCm39) Y12H probably damaging Het
Adam2 C T 14: 66,314,659 (GRCm39) probably null Het
Adgre4 A T 17: 56,104,639 (GRCm39) N235I possibly damaging Het
Aldh3b1 A C 19: 3,971,205 (GRCm39) V153G probably benign Het
B430306N03Rik A G 17: 48,628,101 (GRCm39) Y177C probably damaging Het
Cast A T 13: 74,886,406 (GRCm39) Y249* probably null Het
Cfap43 T C 19: 47,784,105 (GRCm39) D476G probably benign Het
Cpa4 T C 6: 30,581,701 (GRCm39) I216T possibly damaging Het
Cpeb3 T C 19: 37,065,948 (GRCm39) D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 (GRCm39) D413G probably damaging Het
Cyb5a A G 18: 84,895,985 (GRCm39) S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 (GRCm39) probably null Het
Erbin A T 13: 103,975,972 (GRCm39) S641T probably damaging Het
Espn T A 4: 152,222,901 (GRCm39) T326S probably benign Het
Extl1 T C 4: 134,086,514 (GRCm39) M514V probably benign Het
Fancc G A 13: 63,509,452 (GRCm39) L134F probably damaging Het
Fis1 C T 5: 136,994,828 (GRCm39) A90V probably benign Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Gjc3 A G 5: 137,956,120 (GRCm39) F55S probably damaging Het
Gm10762 C T 2: 128,809,005 (GRCm39) probably benign Het
Got1 A G 19: 43,493,048 (GRCm39) I291T possibly damaging Het
Gpr179 C A 11: 97,229,012 (GRCm39) G1048* probably null Het
Ino80 T A 2: 119,287,199 (GRCm39) D56V possibly damaging Het
Kcp C A 6: 29,496,638 (GRCm39) C624F probably damaging Het
Kctd1 T A 18: 15,102,610 (GRCm39) Q857L probably damaging Het
Lins1 G A 7: 66,363,676 (GRCm39) V524I probably damaging Het
Lrp1 A T 10: 127,430,901 (GRCm39) Y383N probably damaging Het
Mgam A C 6: 40,621,879 (GRCm39) K84Q probably benign Het
Mib2 T A 4: 155,739,393 (GRCm39) E862V probably damaging Het
Myh1 G T 11: 67,112,977 (GRCm39) R1827L possibly damaging Het
Myh10 T C 11: 68,642,866 (GRCm39) probably null Het
Myo1e A G 9: 70,245,048 (GRCm39) Y382C probably benign Het
Nktr G A 9: 121,570,218 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,706 (GRCm39) I559T probably damaging Het
Nod2 A T 8: 89,390,364 (GRCm39) M224L probably benign Het
Or4d5 A G 9: 40,012,558 (GRCm39) I76T probably benign Het
Or52n4 A T 7: 104,293,687 (GRCm39) Y295* probably null Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Pex7 G T 10: 19,770,557 (GRCm39) probably benign Het
Ptprb A T 10: 116,175,341 (GRCm39) D1112V probably benign Het
Rubcn G A 16: 32,647,666 (GRCm39) T636M probably damaging Het
Scn5a A C 9: 119,315,536 (GRCm39) L1724R probably damaging Het
Sec14l2 T C 11: 4,066,710 (GRCm39) D34G possibly damaging Het
Serpina3k A G 12: 104,306,882 (GRCm39) D38G probably benign Het
Sh3bp5l A T 11: 58,236,886 (GRCm39) H281L probably benign Het
Slc28a2 T G 2: 122,282,538 (GRCm39) I287M probably damaging Het
Slc2a1 T A 4: 118,989,435 (GRCm39) M45K possibly damaging Het
Syt11 A G 3: 88,669,523 (GRCm39) I123T probably benign Het
Tfg C A 16: 56,514,856 (GRCm39) probably benign Het
Tmem177 T C 1: 119,837,791 (GRCm39) D296G probably damaging Het
Trabd2b A G 4: 114,457,153 (GRCm39) I357V probably benign Het
Trp63 C A 16: 25,639,135 (GRCm39) probably benign Het
Ugt1a8 T C 1: 88,015,617 (GRCm39) L10P probably benign Het
Vmn2r103 A G 17: 20,032,696 (GRCm39) I823M probably damaging Het
Vmn2r45 T C 7: 8,484,467 (GRCm39) N446S probably damaging Het
Vps13c A T 9: 67,820,486 (GRCm39) probably null Het
Vwa3b C T 1: 37,193,117 (GRCm39) T11I probably benign Het
Vwf A C 6: 125,654,933 (GRCm39) Q2543P probably damaging Het
Yap1 G A 9: 7,934,742 (GRCm39) probably benign Het
Zfp282 A C 6: 47,874,770 (GRCm39) D325A probably damaging Het
Zfyve9 T G 4: 108,539,348 (GRCm39) Y975S probably damaging Het
Other mutations in Sh3bgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Sh3bgr APN 16 96,007,690 (GRCm39) missense probably damaging 1.00
R0201:Sh3bgr UTSW 16 96,029,717 (GRCm39) unclassified probably benign
R5042:Sh3bgr UTSW 16 96,007,066 (GRCm39) missense probably benign 0.01
R5203:Sh3bgr UTSW 16 96,025,720 (GRCm39) unclassified probably benign
R5434:Sh3bgr UTSW 16 96,025,744 (GRCm39) unclassified probably benign
R5441:Sh3bgr UTSW 16 96,007,117 (GRCm39) missense possibly damaging 0.68
R6563:Sh3bgr UTSW 16 96,007,143 (GRCm39) splice site probably null
R6869:Sh3bgr UTSW 16 96,007,860 (GRCm39) missense probably damaging 1.00
R6873:Sh3bgr UTSW 16 96,007,691 (GRCm39) missense probably damaging 1.00
R7260:Sh3bgr UTSW 16 96,025,681 (GRCm39) missense unknown
R7373:Sh3bgr UTSW 16 96,007,035 (GRCm39) missense unknown
R7382:Sh3bgr UTSW 16 96,007,093 (GRCm39) missense probably benign 0.04
R7459:Sh3bgr UTSW 16 96,007,122 (GRCm39) missense probably benign 0.02
R8241:Sh3bgr UTSW 16 96,025,070 (GRCm39) missense unknown
R8268:Sh3bgr UTSW 16 96,025,674 (GRCm39) missense unknown
R8396:Sh3bgr UTSW 16 96,007,680 (GRCm39) critical splice acceptor site probably null
R8793:Sh3bgr UTSW 16 96,025,792 (GRCm39) critical splice donor site probably null
R9144:Sh3bgr UTSW 16 96,001,931 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16