Incidental Mutation 'R9246:Sh2d6'
ID 701286
Institutional Source Beutler Lab
Gene Symbol Sh2d6
Ensembl Gene ENSMUSG00000052631
Gene Name SH2 domain containing 6
Synonyms 4933424C13Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R9246 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 72490624-72498690 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 72497594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 3 (K3*)
Ref Sequence ENSEMBL: ENSMUSP00000124673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089687] [ENSMUST00000159877] [ENSMUST00000162561]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089687
SMART Domains Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
SH2 184 276 3.15e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159877
SMART Domains Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631

DomainStartEndE-ValueType
low complexity region 117 130 N/A INTRINSIC
SH2 138 230 3.15e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000162561
AA Change: K3*
SMART Domains Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631
AA Change: K3*

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 190 203 N/A INTRINSIC
SH2 211 303 3.15e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,279,961 (GRCm39) T314I probably benign Het
Abca7 G A 10: 79,838,535 (GRCm39) S603N probably damaging Het
Abcc2 T C 19: 43,786,882 (GRCm39) F168L probably benign Het
Abcc8 T C 7: 45,774,289 (GRCm39) T764A probably benign Het
Acot4 A C 12: 84,090,097 (GRCm39) I265L probably benign Het
Adrb2 C A 18: 62,312,226 (GRCm39) A200S probably damaging Het
Atp2c2 G T 8: 120,456,989 (GRCm39) R197L probably damaging Het
Bmpr1a T C 14: 34,156,664 (GRCm39) T121A probably benign Het
Brwd1 A T 16: 95,804,016 (GRCm39) S2051R probably benign Het
Card10 T C 15: 78,673,036 (GRCm39) E547G possibly damaging Het
Cbln1 A T 8: 88,197,048 (GRCm39) I139N probably damaging Het
Ccdc86 CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA 19: 10,926,162 (GRCm39) probably benign Het
Cdh16 C T 8: 105,344,602 (GRCm39) D510N probably benign Het
Cdh2 G A 18: 16,781,654 (GRCm39) Q146* probably null Het
Cdhr1 T G 14: 36,801,654 (GRCm39) K763T possibly damaging Het
Cfl1 G C 19: 5,543,634 (GRCm39) G204R probably damaging Het
Clcn6 A T 4: 148,113,866 (GRCm39) V64E probably benign Het
Col4a4 G A 1: 82,430,956 (GRCm39) P1649S unknown Het
Ctnna1 T A 18: 35,356,562 (GRCm39) N410K probably benign Het
Dhx34 A G 7: 15,937,162 (GRCm39) F845S probably damaging Het
Dnah7c T G 1: 46,571,934 (GRCm39) N802K possibly damaging Het
Dnmt3a T C 12: 3,949,204 (GRCm39) S492P probably damaging Het
Fhit C A 14: 10,421,494 (GRCm38) probably null Het
Fzd2 A T 11: 102,496,749 (GRCm39) I398F possibly damaging Het
Gm9195 A G 14: 72,710,314 (GRCm39) S457P probably benign Het
Gnao1 A G 8: 94,676,967 (GRCm39) K211E Het
Gzme T C 14: 56,356,198 (GRCm39) D100G probably benign Het
Hook3 T C 8: 26,562,319 (GRCm39) T249A probably benign Het
Hoxd4 G A 2: 74,558,747 (GRCm39) C190Y possibly damaging Het
Hr T A 14: 70,808,915 (GRCm39) V1097E probably damaging Het
Iqca1l T G 5: 24,753,969 (GRCm39) E430A probably benign Het
Kdm3b A T 18: 34,941,480 (GRCm39) K524* probably null Het
Kif18a A G 2: 109,163,819 (GRCm39) T723A probably benign Het
Kif1a A G 1: 93,005,501 (GRCm39) V91A probably damaging Het
Krtap19-2 AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA AAAGCCTCCA 16: 88,670,859 (GRCm39) probably benign Het
Lama3 G A 18: 12,710,959 (GRCm39) V1559M probably damaging Het
Maco1 A G 4: 134,565,242 (GRCm39) V47A possibly damaging Het
Msto1 A T 3: 88,819,411 (GRCm39) I160N probably damaging Het
Muc5ac C A 7: 141,364,215 (GRCm39) Q2509K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1ad8 T A 11: 50,897,891 (GRCm39) F31I probably damaging Het
Or2ag2b C T 7: 106,417,938 (GRCm39) T216I probably benign Het
Or52ad1 C T 7: 102,995,908 (GRCm39) V76I probably damaging Het
Or7e170 T C 9: 19,795,686 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,222 (GRCm39) M136K probably damaging Het
Pik3c3 C A 18: 30,466,364 (GRCm39) A805D probably damaging Het
Pnn A G 12: 59,116,929 (GRCm39) Q167R probably damaging Het
Pogk G T 1: 166,226,380 (GRCm39) H590Q probably damaging Het
Prkcd A G 14: 30,327,432 (GRCm39) L251P probably damaging Het
Prrc1 T A 18: 57,496,208 (GRCm39) V53E probably benign Het
Ripor1 T C 8: 106,345,522 (GRCm39) F856S unknown Het
Rnf31 G A 14: 55,833,698 (GRCm39) A569T probably benign Het
Robo1 T A 16: 72,769,178 (GRCm39) D532E probably benign Het
Slc22a27 T C 19: 7,874,209 (GRCm39) T289A probably benign Het
Speg T C 1: 75,361,498 (GRCm39) S171P probably damaging Het
Stag1 T A 9: 100,770,329 (GRCm39) F622I probably benign Het
Stxbp1 T C 2: 32,679,586 (GRCm39) D589G possibly damaging Het
Syne1 T C 10: 5,255,706 (GRCm39) I2391M probably benign Het
Sytl2 A G 7: 90,007,384 (GRCm39) M49V probably benign Het
Tmem185b T C 1: 119,454,368 (GRCm39) V43A probably damaging Het
Trappc8 A T 18: 20,993,590 (GRCm39) M499K possibly damaging Het
Vmn1r172 T A 7: 23,359,593 (GRCm39) S159R possibly damaging Het
Vmn1r62 A G 7: 5,678,628 (GRCm39) Y103C probably damaging Het
Vmn1r65 C T 7: 6,011,769 (GRCm39) C155Y possibly damaging Het
Vmn2r112 G A 17: 22,824,088 (GRCm39) V448I probably benign Het
Zfp592 A T 7: 80,691,529 (GRCm39) D1236V probably benign Het
Zfp827 T C 8: 79,803,132 (GRCm39) V568A possibly damaging Het
Zscan4-ps3 A T 7: 11,346,320 (GRCm39) I147F probably damaging Het
Other mutations in Sh2d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Sh2d6 APN 6 72,496,812 (GRCm39) missense probably benign
IGL01386:Sh2d6 APN 6 72,495,945 (GRCm39) missense probably benign 0.04
IGL02058:Sh2d6 APN 6 72,490,961 (GRCm39) nonsense probably null
IGL02950:Sh2d6 APN 6 72,492,285 (GRCm39) missense probably damaging 1.00
IGL02963:Sh2d6 APN 6 72,494,584 (GRCm39) missense probably benign 0.01
R1981:Sh2d6 UTSW 6 72,494,527 (GRCm39) splice site probably benign
R2304:Sh2d6 UTSW 6 72,497,542 (GRCm39) missense probably damaging 1.00
R4520:Sh2d6 UTSW 6 72,495,936 (GRCm39) missense possibly damaging 0.48
R4793:Sh2d6 UTSW 6 72,494,581 (GRCm39) missense probably benign
R5079:Sh2d6 UTSW 6 72,496,833 (GRCm39) missense probably benign 0.02
R7424:Sh2d6 UTSW 6 72,494,147 (GRCm39) missense probably benign 0.05
R9045:Sh2d6 UTSW 6 72,492,604 (GRCm39) missense probably benign 0.22
RF013:Sh2d6 UTSW 6 72,493,371 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTTTCTGCCCAGCTGAGAGG -3'
(R):5'- GGGTGAAGCAAAACCAGTCTATC -3'

Sequencing Primer
(F):5'- AGCTGAGGCCCTTTTCTGC -3'
(R):5'- ATCTATCCAGATACCCAAGTTTGGAG -3'
Posted On 2022-03-25