Incidental Mutation 'R8396:Sh3bgr'
ID 647626
Institutional Source Beutler Lab
Gene Symbol Sh3bgr
Ensembl Gene ENSMUSG00000040666
Gene Name SH3-binding domain glutamic acid-rich protein
Synonyms 5430437A18Rik
MMRRC Submission 067812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R8396 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 96001670-96030133 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 96007680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048770] [ENSMUST00000129904] [ENSMUST00000166952] [ENSMUST00000171181]
AlphaFold Q9WUZ7
Predicted Effect probably null
Transcript: ENSMUST00000048770
SMART Domains Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666

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 null
Transcript: ENSMUST00000129904
SMART Domains Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666

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

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 null
Transcript: ENSMUST00000166952
SMART Domains Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 1.9e-50 PFAM
Pfam:Glutaredoxin 21 76 8.7e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171181
SMART Domains Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A G 10: 18,528,280 (GRCm39) probably null Het
Arid1a T C 4: 133,479,973 (GRCm39) Y317C probably damaging Het
Asxl2 A G 12: 3,552,220 (GRCm39) T1321A probably benign Het
Bckdk A G 7: 127,504,931 (GRCm39) Y129C probably damaging Het
Birc2 A G 9: 7,834,301 (GRCm39) V60A probably benign Het
Bmp8a T C 4: 123,218,952 (GRCm39) H152R probably benign Het
C3 T C 17: 57,528,029 (GRCm39) H730R probably benign Het
Ccser1 T A 6: 61,289,088 (GRCm39) V417E probably benign Het
Cfap58 T A 19: 48,017,540 (GRCm39) M800K probably damaging Het
Clip1 A G 5: 123,780,627 (GRCm39) L352P probably damaging Het
Cr2 A G 1: 194,840,376 (GRCm39) L522P probably damaging Het
Ctcf T A 8: 106,393,379 (GRCm39) H347Q possibly damaging Het
Gm13271 A T 4: 88,673,318 (GRCm39) M72L probably benign Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Irx5 G A 8: 93,086,962 (GRCm39) G298D probably benign Het
Klf5 T C 14: 99,539,670 (GRCm39) I361T possibly damaging Het
Lsm11 G A 11: 45,835,591 (GRCm39) A50V probably benign Het
Map1b T C 13: 99,570,621 (GRCm39) K700R unknown Het
Muc5b A T 7: 141,405,552 (GRCm39) T954S unknown Het
Nhsl1 A G 10: 18,400,910 (GRCm39) N678S probably benign Het
Npsr1 T A 9: 24,221,377 (GRCm39) I277N possibly damaging Het
Ntsr2 A G 12: 16,706,821 (GRCm39) H283R probably damaging Het
Obscn A T 11: 58,893,829 (GRCm39) I6746N probably benign Het
Obsl1 T C 1: 75,480,350 (GRCm39) T425A probably benign Het
Pag1 T A 3: 9,759,112 (GRCm39) E335D probably benign Het
Parp3 T A 9: 106,351,447 (GRCm39) Q223L probably benign Het
Pogz T C 3: 94,786,061 (GRCm39) V883A probably benign Het
Rsbn1l A T 5: 21,132,665 (GRCm39) M198K probably benign Het
Shc4 A G 2: 125,471,617 (GRCm39) I600T probably damaging Het
Slc26a1 T C 5: 108,821,715 (GRCm39) H74R probably benign Het
Slc7a11 A C 3: 50,338,578 (GRCm39) I277S possibly damaging Het
Tep1 G T 14: 51,074,529 (GRCm39) T1832N probably benign Het
Terf2 A G 8: 107,809,613 (GRCm39) probably null Het
Tle4 G A 19: 14,432,323 (GRCm39) Q458* probably null Het
Trim34b A T 7: 103,979,083 (GRCm39) D110V probably damaging Het
Usp9y A T Y: 1,308,034 (GRCm39) N2267K possibly damaging Het
Vmn2r50 G A 7: 9,781,639 (GRCm39) Q369* probably null Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp229 T C 17: 21,965,077 (GRCm39) S436P probably damaging Het
Other mutations in Sh3bgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Sh3bgr APN 16 96,007,690 (GRCm39) missense probably damaging 1.00
IGL01404: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
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
Predicted Primers PCR Primer
(F):5'- TGTCAGCACCCACTTGTACG -3'
(R):5'- TGCTCTTCATTGAAGATCTGAGGG -3'

Sequencing Primer
(F):5'- CCGATCCTTTCTGATGGGAAG -3'
(R):5'- GGGCAAAGGGATCCCATTCTG -3'
Posted On 2020-09-02