Incidental Mutation 'R0012:Sharpin'
ID32584
Institutional Source Beutler Lab
Gene Symbol Sharpin
Ensembl Gene ENSMUSG00000022552
Gene NameSHANK-associated RH domain interacting protein
SynonymsSIPL1, 0610041B22Rik, cpdm
MMRRC Submission 038307-MU
Accession Numbers

VEGA: OTTMUST00000057935; MGI: 1913331

Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock #R0012 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location76347040-76351111 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 76348343 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 156 (P156T)
Ref Sequence ENSEMBL: ENSMUSP00000023211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160172] [ENSMUST00000160560] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000229013] [ENSMUST00000230314] [ENSMUST00000230706] [ENSMUST00000231045]
Predicted Effect probably benign
Transcript: ENSMUST00000023210
SMART Domains Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Pfam:Cytochrom_C1 96 314 1.5e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000023211
AA Change: P156T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: P156T

DomainStartEndE-ValueType
Pfam:Sharpin_PH 13 125 1.2e-44 PFAM
low complexity region 187 202 N/A INTRINSIC
PDB:4DBG|A 203 299 1e-17 PDB
SCOP:d1euvb_ 212 301 2e-5 SMART
Blast:UBQ 218 299 2e-26 BLAST
ZnF_RBZ 343 367 9.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023212
SMART Domains Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154477
Predicted Effect probably benign
Transcript: ENSMUST00000159429
SMART Domains Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
ZnF_RBZ 46 70 9.65e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160097
Predicted Effect probably benign
Transcript: ENSMUST00000160172
SMART Domains Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.7e-70 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160560
AA Change: N97K
SMART Domains Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
AA Change: N97K

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
PDB:4EMO|D 24 62 2e-13 PDB
low complexity region 64 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160853
SMART Domains Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 25 202 4.6e-67 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160875
Predicted Effect probably benign
Transcript: ENSMUST00000160914
SMART Domains Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:Maf1 84 202 4.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161391
Predicted Effect probably benign
Transcript: ENSMUST00000161527
SMART Domains Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162871
Predicted Effect probably benign
Transcript: ENSMUST00000229013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230016
Predicted Effect unknown
Transcript: ENSMUST00000230314
AA Change: N97K
Predicted Effect probably benign
Transcript: ENSMUST00000230706
Predicted Effect probably benign
Transcript: ENSMUST00000231045
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 98% (81/83)
MGI Phenotype PHENOTYPE: Mutations in this gene produces chronic skin lesions. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(2) Spontaneous(2)          

Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 A T 2: 131,052,920 L687Q probably damaging Het
Adap1 A G 5: 139,307,734 probably benign Het
Add2 T A 6: 86,098,628 V253E probably damaging Het
Agtr1a A T 13: 30,381,749 I266F probably damaging Het
Anxa9 A G 3: 95,308,095 probably benign Het
Arap2 G A 5: 62,683,484 L680F probably damaging Het
Asna1 T C 8: 85,025,096 probably benign Het
Bnip3 A G 7: 138,898,672 probably benign Het
Brwd1 A C 16: 96,059,652 S311R probably damaging Het
C2cd3 G A 7: 100,418,522 V871M possibly damaging Het
Cacul1 A G 19: 60,564,253 W145R probably damaging Het
Celf5 C A 10: 81,469,512 V141L probably damaging Het
Cfap206 C A 4: 34,714,519 L392F possibly damaging Het
Chd2 G T 7: 73,455,519 T192K probably damaging Het
Chrna10 T C 7: 102,115,057 N40S possibly damaging Het
Cic T A 7: 25,287,140 S1299T probably damaging Het
Cic C A 7: 25,287,141 S1299Y probably damaging Het
Clspn T A 4: 126,564,929 probably benign Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Col5a3 A T 9: 20,777,108 probably benign Het
Copb1 T A 7: 114,237,408 K366N probably damaging Het
Cul9 G A 17: 46,538,510 R570C probably benign Het
Cyp2c70 A T 19: 40,187,243 L7Q probably null Het
Dock2 T C 11: 34,783,795 E10G possibly damaging Het
Dpysl4 T G 7: 139,097,883 I412S probably benign Het
Eaf2 T A 16: 36,808,174 probably benign Het
Fasl T C 1: 161,788,164 D41G probably benign Het
Fat2 A G 11: 55,262,871 V3505A probably benign Het
Fbxo24 A G 5: 137,621,994 F101S probably damaging Het
Fdft1 T C 14: 63,177,698 I28M probably benign Het
Gcnt3 T C 9: 70,034,085 I400M probably benign Het
Gpd2 T A 2: 57,338,868 M228K probably damaging Het
Gsap T A 5: 21,226,229 probably benign Het
Hipk1 A G 3: 103,763,680 M467T probably damaging Het
Hmgb4 T A 4: 128,260,725 I17F probably damaging Het
Ints10 C A 8: 68,807,475 L284M probably benign Het
Kif17 T G 4: 138,293,748 S606A probably damaging Het
Lifr C A 15: 7,175,608 T442K possibly damaging Het
Lypd4 A G 7: 24,865,332 L127P probably damaging Het
Lyst A G 13: 13,687,694 H2605R probably benign Het
Map3k4 A G 17: 12,238,189 S1289P probably damaging Het
Mgam T A 6: 40,765,256 probably null Het
Mob1b G A 5: 88,756,084 probably benign Het
Mrgpra1 A G 7: 47,335,470 S154P probably damaging Het
Ms4a4c C A 19: 11,418,980 probably benign Het
Mthfd2l A T 5: 90,961,383 H224L probably damaging Het
Myh8 T C 11: 67,300,021 Y1350H probably benign Het
Nectin2 T C 7: 19,730,744 probably benign Het
Nos1 A C 5: 117,893,902 N305T probably damaging Het
Ogfrl1 T A 1: 23,370,125 Q340L possibly damaging Het
Olfr1318 A T 2: 112,156,826 N292Y possibly damaging Het
Olfr1502 C A 19: 13,861,823 T10K probably damaging Het
Olfr170 T C 16: 19,606,440 N76S probably benign Het
Olfr427 T G 1: 174,100,207 F250V probably damaging Het
Orc1 T C 4: 108,595,646 probably null Het
Plekhg5 C A 4: 152,104,750 D249E probably benign Het
Plet1 A G 9: 50,499,130 I74V probably benign Het
Psmd2 T A 16: 20,661,684 D718E probably damaging Het
Rab33b G T 3: 51,484,316 probably benign Het
Rae1 T A 2: 173,002,673 F4I unknown Het
Ralgapa2 A G 2: 146,412,752 Y821H probably benign Het
Scd2 G A 19: 44,301,246 V227I probably benign Het
Slc38a4 C T 15: 96,999,629 R435H probably damaging Het
Snrnp200 T C 2: 127,228,549 V1061A probably benign Het
Suclg1 A G 6: 73,270,997 T234A possibly damaging Het
Swsap1 T C 9: 21,957,022 C197R probably benign Het
Tbx15 A G 3: 99,352,096 T428A probably benign Het
Tet2 T C 3: 133,476,558 Y1215C probably damaging Het
Tjp1 A G 7: 65,329,775 probably benign Het
Tmem209 G T 6: 30,502,113 probably benign Het
Tnpo3 T C 6: 29,589,177 E58G probably damaging Het
Trp53bp2 T A 1: 182,444,718 M464K probably damaging Het
Ttc32 A G 12: 9,035,897 Y148C possibly damaging Het
Unc80 T C 1: 66,507,391 S541P probably damaging Het
Ushbp1 T C 8: 71,395,040 probably benign Het
Vmn2r100 A G 17: 19,504,874 M22V probably benign Het
Vmn2r100 A T 17: 19,526,034 E485V probably damaging Het
Wdr24 G A 17: 25,827,113 V471I probably benign Het
Zfp35 T A 18: 24,002,944 M115K probably benign Het
Zfp429 G A 13: 67,390,677 S216L probably benign Het
Zfp644 T G 5: 106,635,043 E1155A probably benign Het
Other mutations in Sharpin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sharpin APN 15 76348224 missense probably damaging 0.99
R0012:Sharpin UTSW 15 76348343 missense possibly damaging 0.88
R1733:Sharpin UTSW 15 76347936 missense probably benign 0.00
R1735:Sharpin UTSW 15 76347936 missense probably benign 0.00
R2051:Sharpin UTSW 15 76348207 missense probably benign 0.02
R2172:Sharpin UTSW 15 76350666 unclassified probably benign
R2909:Sharpin UTSW 15 76350611 unclassified probably benign
R4749:Sharpin UTSW 15 76347567 missense probably damaging 0.99
R5027:Sharpin UTSW 15 76350025 unclassified probably benign
R5050:Sharpin UTSW 15 76348330 missense probably damaging 1.00
R5062:Sharpin UTSW 15 76347611 unclassified probably benign
R5172:Sharpin UTSW 15 76347541 missense probably benign 0.02
R5428:Sharpin UTSW 15 76350666 unclassified probably benign
R5610:Sharpin UTSW 15 76350053 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACATGATGCTGCGCCAGGAC -3'
(R):5'- TTTGAGGGCCAAGGCTGGGA -3'

Sequencing Primer
(F):5'- AGGACTGCTGCCACTTGG -3'
(R):5'- TAGCCTGAATTATGGCCTAAGG -3'
Posted On2013-05-09