Incidental Mutation 'R7537:Sbk2'
ID583647
Institutional Source Beutler Lab
Gene Symbol Sbk2
Ensembl Gene ENSMUSG00000030433
Gene NameSH3-binding domain kinase family, member 2
SynonymsLOC381836
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7537 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location4940512-4964406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4963149 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 12 (E12G)
Ref Sequence ENSEMBL: ENSMUSP00000032598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032598] [ENSMUST00000133272] [ENSMUST00000144863] [ENSMUST00000182214] [ENSMUST00000183170] [ENSMUST00000208109]
Predicted Effect probably benign
Transcript: ENSMUST00000032598
AA Change: E12G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032598
Gene: ENSMUSG00000030433
AA Change: E12G

DomainStartEndE-ValueType
low complexity region 15 50 N/A INTRINSIC
Pfam:Pkinase_Tyr 62 296 2.8e-21 PFAM
Pfam:Pkinase 62 329 1.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133272
SMART Domains Protein: ENSMUSP00000120654
Gene: ENSMUSG00000085272

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:Pkinase_Tyr 43 268 1.8e-17 PFAM
Pfam:Pkinase 43 304 1.7e-30 PFAM
Pfam:Kinase-like 130 262 1.6e-8 PFAM
low complexity region 309 321 N/A INTRINSIC
low complexity region 328 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144863
SMART Domains Protein: ENSMUSP00000122507
Gene: ENSMUSG00000085272

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 24 248 3.1e-17 PFAM
Pfam:Pkinase 24 284 5.6e-32 PFAM
Pfam:Kinase-like 111 237 2.5e-7 PFAM
low complexity region 290 302 N/A INTRINSIC
low complexity region 309 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182214
AA Change: E12G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138504
Gene: ENSMUSG00000030433
AA Change: E12G

DomainStartEndE-ValueType
low complexity region 15 50 N/A INTRINSIC
Pfam:Pkinase_Tyr 62 296 3.7e-21 PFAM
Pfam:Pkinase 62 329 6.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183170
AA Change: E12G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138187
Gene: ENSMUSG00000030433
AA Change: E12G

DomainStartEndE-ValueType
low complexity region 15 50 N/A INTRINSIC
Pfam:Pkinase_Tyr 62 211 1.9e-18 PFAM
Pfam:Pkinase 62 212 3.2e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000208109
AA Change: E12G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,173,988 L2229P possibly damaging Het
Acaca T A 11: 84,260,634 M786K probably damaging Het
Acta2 G A 19: 34,252,531 T8I probably benign Het
Adap1 T G 5: 139,293,173 E117D possibly damaging Het
Ap5z1 T C 5: 142,477,298 S746P probably benign Het
Appl2 A G 10: 83,617,428 I208T possibly damaging Het
Astn1 G A 1: 158,667,638 probably null Het
Astn1 A G 1: 158,505,386 E346G possibly damaging Het
Atp23 T A 10: 126,868,725 I180L unknown Het
Bean1 CT C 8: 104,182,032 probably null Het
Cdh23 A T 10: 60,384,945 I1340N probably benign Het
Cdh8 G A 8: 99,098,885 Q493* probably null Het
Ces1g T C 8: 93,319,827 I357V probably benign Het
Ddx46 A G 13: 55,650,478 D226G probably damaging Het
Eea1 C T 10: 95,994,905 Q143* probably null Het
Erlin2 G T 8: 27,031,772 probably null Het
Fat3 T A 9: 15,938,319 D3929V probably damaging Het
Flt3 T C 5: 147,334,437 D898G probably damaging Het
Gm16519 A G 17: 70,929,356 N100S probably benign Het
Gnl1 A G 17: 35,988,536 H533R probably damaging Het
Gphn A G 12: 78,504,680 T301A possibly damaging Het
Herc2 C T 7: 56,219,779 R4295* probably null Het
Insm2 T C 12: 55,599,518 S16P possibly damaging Het
Jak2 C T 19: 29,298,637 T778I probably benign Het
Lrriq3 A G 3: 155,101,097 T128A probably damaging Het
Lst1 A G 17: 35,186,944 probably null Het
Magi1 G T 6: 93,708,110 Y762* probably null Het
Man2b1 T A 8: 85,090,965 C358* probably null Het
Mga T C 2: 119,935,551 V1432A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Morc2a C T 11: 3,683,566 Q587* probably null Het
Mrc2 T C 11: 105,292,797 I4T probably benign Het
Muc16 C A 9: 18,638,135 V5621F probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Myo3b A G 2: 70,217,169 R340G probably benign Het
Nipal3 T C 4: 135,490,937 Y34C probably damaging Het
Nktr T A 9: 121,749,279 D804E unknown Het
Nlrp4b A G 7: 10,714,889 M340V probably benign Het
Olfr1039 A G 2: 86,131,264 V133A probably benign Het
Olfr385 T A 11: 73,589,268 T157S probably benign Het
Olfr680-ps1 A T 7: 105,092,771 M16K probably benign Het
Olfr701 G A 7: 106,818,374 C97Y probably damaging Het
Pard3 T A 8: 127,610,582 N1271K probably damaging Het
Pcdhb11 A T 18: 37,421,619 M1L possibly damaging Het
Pclo T C 5: 14,682,104 V3540A unknown Het
Pemt A G 11: 59,976,844 F154S probably damaging Het
Ptpn18 G A 1: 34,473,364 D417N possibly damaging Het
Rnpc3 G T 3: 113,613,832 T376K probably benign Het
Rpe65 A G 3: 159,604,609 Y143C probably damaging Het
Slc2a5 T C 4: 150,129,069 I106T possibly damaging Het
Snx13 A G 12: 35,085,982 D92G probably damaging Het
Sorl1 C T 9: 41,980,688 V1889I probably benign Het
Spag17 A T 3: 99,939,247 N29I possibly damaging Het
Speg T C 1: 75,401,464 V878A probably damaging Het
Timp4 A G 6: 115,250,460 S53P probably damaging Het
Tssk1 G T 16: 17,895,084 E244D probably benign Het
Usp29 A C 7: 6,961,220 T21P possibly damaging Het
Vmn2r85 A T 10: 130,422,866 V440E probably benign Het
Wdr59 T C 8: 111,490,369 D270G Het
Zbbx G A 3: 75,085,519 P223S probably damaging Het
Zfp936 T A 7: 43,189,815 C235* probably null Het
Zranb3 A T 1: 128,032,847 probably null Het
Other mutations in Sbk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Sbk2 APN 7 4957529 missense probably damaging 1.00
IGL01595:Sbk2 APN 7 4957713 missense possibly damaging 0.86
IGL01688:Sbk2 APN 7 4957717 intron probably benign
IGL02901:Sbk2 APN 7 4957290 missense possibly damaging 0.66
IGL03392:Sbk2 APN 7 4957409 missense probably damaging 1.00
R1714:Sbk2 UTSW 7 4963122 missense probably benign 0.15
R2679:Sbk2 UTSW 7 4957120 splice site probably null
R3158:Sbk2 UTSW 7 4957527 nonsense probably null
R4088:Sbk2 UTSW 7 4957628 missense probably damaging 1.00
R4709:Sbk2 UTSW 7 4957578 missense possibly damaging 0.79
R5211:Sbk2 UTSW 7 4962967 missense possibly damaging 0.89
R5906:Sbk2 UTSW 7 4957628 missense probably damaging 1.00
R6393:Sbk2 UTSW 7 4957622 missense probably damaging 1.00
R6967:Sbk2 UTSW 7 4964147 critical splice donor site probably null
R7045:Sbk2 UTSW 7 4958906 missense probably damaging 0.99
R7810:Sbk2 UTSW 7 4958939 missense probably damaging 1.00
R8058:Sbk2 UTSW 7 4957290 missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TGAGTAACCAGCAGGACACG -3'
(R):5'- AGACTTCTTCCTCAAACCTAGAGTC -3'

Sequencing Primer
(F):5'- AGCAGGACACGGCCGAAC -3'
(R):5'- CCTTGAGGTCCAGACTGTG -3'
Posted On2019-10-17