Incidental Mutation 'R3951:Sh2d4b'
ID 307964
Institutional Source Beutler Lab
Gene Symbol Sh2d4b
Ensembl Gene ENSMUSG00000037833
Gene Name SH2 domain containing 4B
Synonyms A430109M18Rik
MMRRC Submission 040828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3951 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 40535746-40615223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40594503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 159 (I159T)
Ref Sequence ENSEMBL: ENSMUSP00000093699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096000]
AlphaFold A6X942
Predicted Effect probably damaging
Transcript: ENSMUST00000096000
AA Change: I159T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: I159T

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
coiled coil region 149 234 N/A INTRINSIC
SH2 323 406 4.87e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225854
Meta Mutation Damage Score 0.2450 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Akr1c18 C T 13: 4,185,284 (GRCm39) V283I probably benign Het
Atp2b2 T A 6: 113,737,792 (GRCm39) M861L possibly damaging Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clspn A G 4: 126,470,172 (GRCm39) E814G probably damaging Het
Csgalnact1 T C 8: 68,913,914 (GRCm39) Q97R probably benign Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Ect2 A T 3: 27,184,269 (GRCm39) D517E probably benign Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat2 T C 11: 55,187,208 (GRCm39) T1213A probably benign Het
Fkbp8 T A 8: 70,985,311 (GRCm39) L275Q probably damaging Het
Gabrb2 A G 11: 42,517,708 (GRCm39) Y510C probably damaging Het
Gda T C 19: 21,449,809 (GRCm39) T16A probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Gm527 T G 12: 64,970,276 (GRCm39) probably benign Het
Hoxb2 A G 11: 96,244,001 (GRCm39) E204G probably damaging Het
Hsd17b11 G A 5: 104,140,803 (GRCm39) probably benign Het
Kat14 T C 2: 144,249,249 (GRCm39) probably benign Het
Kif16b C T 2: 142,549,279 (GRCm39) V1079I probably benign Het
Klhl29 T A 12: 5,190,660 (GRCm39) S112C probably damaging Het
Lpcat2 G T 8: 93,591,531 (GRCm39) M58I probably benign Het
Lrrc8d G T 5: 105,962,142 (GRCm39) V851F probably benign Het
Ltbp3 T C 19: 5,806,029 (GRCm39) V929A probably damaging Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Map3k9 T C 12: 81,769,295 (GRCm39) M941V probably benign Het
Myom2 A T 8: 15,134,556 (GRCm39) Y453F probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ncor2 G T 5: 125,109,320 (GRCm39) D1496E possibly damaging Het
Ndnf T C 6: 65,680,125 (GRCm39) Y135H possibly damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Nmur2 G C 11: 55,931,051 (GRCm39) P220R probably damaging Het
Nsd1 G C 13: 55,416,267 (GRCm39) E1438Q probably benign Het
Or5al7 G T 2: 85,992,962 (GRCm39) C110* probably null Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or8g2 A T 9: 39,822,021 (GRCm39) R307S probably benign Het
Or9s23 T A 1: 92,501,511 (GRCm39) M206K possibly damaging Het
Pom121l2 T G 13: 22,166,298 (GRCm39) S190A probably damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Scarb1 A C 5: 125,364,475 (GRCm39) C85G probably damaging Het
Skic3 T G 13: 76,278,338 (GRCm39) L551V probably damaging Het
Sntg1 C T 1: 8,853,125 (GRCm39) probably benign Het
Sos1 G A 17: 80,731,610 (GRCm39) T630I probably damaging Het
Spata7 T A 12: 98,635,732 (GRCm39) D517E probably damaging Het
Tcaf1 T C 6: 42,655,993 (GRCm39) T328A probably benign Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Tubb3 C A 8: 124,148,003 (GRCm39) T312N probably damaging Het
Ubr4 G A 4: 139,120,405 (GRCm39) V277M probably damaging Het
Uhrf2 G A 19: 30,057,261 (GRCm39) R473Q probably damaging Het
Vmn2r43 T A 7: 8,258,319 (GRCm39) H298L probably benign Het
Other mutations in Sh2d4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Sh2d4b APN 14 40,594,490 (GRCm39) missense probably benign 0.00
IGL01552:Sh2d4b APN 14 40,582,605 (GRCm39) missense probably benign
IGL02556:Sh2d4b APN 14 40,542,700 (GRCm39) missense probably benign 0.00
R0961:Sh2d4b UTSW 14 40,596,139 (GRCm39) missense probably benign 0.07
R1573:Sh2d4b UTSW 14 40,564,329 (GRCm39) critical splice donor site probably null
R1672:Sh2d4b UTSW 14 40,614,921 (GRCm39) start codon destroyed probably null 1.00
R2360:Sh2d4b UTSW 14 40,582,548 (GRCm39) critical splice donor site probably null
R4728:Sh2d4b UTSW 14 40,564,389 (GRCm39) nonsense probably null
R4824:Sh2d4b UTSW 14 40,562,301 (GRCm39) missense probably benign 0.01
R6222:Sh2d4b UTSW 14 40,542,694 (GRCm39) missense probably damaging 1.00
R6497:Sh2d4b UTSW 14 40,596,139 (GRCm39) missense probably benign 0.07
R6541:Sh2d4b UTSW 14 40,542,748 (GRCm39) missense probably benign
R7136:Sh2d4b UTSW 14 40,562,209 (GRCm39) missense probably benign 0.08
R7864:Sh2d4b UTSW 14 40,562,208 (GRCm39) missense probably damaging 0.98
R7947:Sh2d4b UTSW 14 40,542,723 (GRCm39) missense probably damaging 1.00
R8843:Sh2d4b UTSW 14 40,614,832 (GRCm39) missense probably benign 0.15
R8886:Sh2d4b UTSW 14 40,595,946 (GRCm39) intron probably benign
R9292:Sh2d4b UTSW 14 40,537,914 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGGGCCTAAGGTGTGTCAAG -3'
(R):5'- AAGGAAGCCTGCTTGTTGC -3'

Sequencing Primer
(F):5'- AAGGTGTGTCAAGTTCCTTCC -3'
(R):5'- GAAGTTACACAGAGTCATCATCTTC -3'
Posted On 2015-04-17