Incidental Mutation 'R7367:Sh3d19'
ID 571862
Institutional Source Beutler Lab
Gene Symbol Sh3d19
Ensembl Gene ENSMUSG00000028082
Gene Name SH3 domain protein D19
Synonyms Kryn
MMRRC Submission 045451-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 85878416-86037833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86011535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 374 (K374E)
Ref Sequence ENSEMBL: ENSMUSP00000103291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107664] [ENSMUST00000182666]
AlphaFold Q91X43
Predicted Effect probably benign
Transcript: ENSMUST00000107664
AA Change: K374E

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: K374E

DomainStartEndE-ValueType
low complexity region 336 361 N/A INTRINSIC
SH3 417 472 1.33e-3 SMART
SH3 497 552 1.88e-21 SMART
SH3 573 628 3.99e-16 SMART
SH3 663 718 2.8e-20 SMART
SH3 732 787 7.62e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182666
AA Change: K374E

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: K374E

DomainStartEndE-ValueType
low complexity region 336 361 N/A INTRINSIC
SH3 417 472 1.33e-3 SMART
SH3 497 552 1.88e-21 SMART
SH3 573 628 3.99e-16 SMART
SH3 663 718 2.8e-20 SMART
SH3 732 787 7.62e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,996,312 (GRCm39) T374A probably benign Het
Agps T A 2: 75,698,657 (GRCm39) H348Q possibly damaging Het
Ankrd34b C A 13: 92,574,795 (GRCm39) T9K probably benign Het
Atp10b A G 11: 43,138,328 (GRCm39) Q1203R probably damaging Het
B4galnt4 A G 7: 140,644,388 (GRCm39) N123D probably damaging Het
Ccn6 A G 10: 39,034,261 (GRCm39) C114R probably damaging Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfh A T 1: 140,014,259 (GRCm39) H1188Q probably damaging Het
Cisd1 A G 10: 71,172,190 (GRCm39) Y31H probably damaging Het
Cnga1 G A 5: 72,762,701 (GRCm39) S271F possibly damaging Het
Cntnap5a A G 1: 116,370,025 (GRCm39) T881A probably benign Het
Cracd T A 5: 77,004,449 (GRCm39) L270Q unknown Het
Cyp2s1 A T 7: 25,505,398 (GRCm39) D355E possibly damaging Het
Dnaaf10 A G 11: 17,182,712 (GRCm39) Y291C probably damaging Het
Dnah11 T A 12: 117,951,177 (GRCm39) R3044W possibly damaging Het
Dnah17 T C 11: 118,006,022 (GRCm39) D730G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Flacc1 A T 1: 58,706,023 (GRCm39) I282N probably benign Het
Fsd2 A G 7: 81,184,928 (GRCm39) I656T probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm45871 A T 18: 90,609,224 (GRCm39) H154L probably benign Het
Golgb1 T A 16: 36,718,908 (GRCm39) N312K probably benign Het
H2ac4 A G 13: 23,935,333 (GRCm39) D73G possibly damaging Het
Hsd17b4 T A 18: 50,288,252 (GRCm39) H227Q probably damaging Het
Hsd17b6 A T 10: 127,829,492 (GRCm39) S237T probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Kcnv1 C T 15: 44,972,638 (GRCm39) C415Y probably damaging Het
Kif11 T A 19: 37,408,789 (GRCm39) L1037H probably benign Het
Lama5 T C 2: 179,834,751 (GRCm39) T1347A probably benign Het
Lrrc32 G T 7: 98,148,086 (GRCm39) E289* probably null Het
Lrrc66 T C 5: 73,765,724 (GRCm39) T440A probably benign Het
Neurl4 T C 11: 69,799,408 (GRCm39) L928P probably damaging Het
Nos2 G A 11: 78,840,916 (GRCm39) C788Y possibly damaging Het
Or2c1 A G 16: 3,657,166 (GRCm39) T110A probably damaging Het
Or4x11 A G 2: 89,868,156 (GRCm39) S298G probably benign Het
Or5m5 T C 2: 85,814,687 (GRCm39) W168R possibly damaging Het
Pafah1b3 A G 7: 24,995,491 (GRCm39) C156R probably benign Het
Pak1ip1 T G 13: 41,162,371 (GRCm39) N151K probably damaging Het
Pax7 G A 4: 139,507,060 (GRCm39) P326S probably benign Het
Pex11b G A 3: 96,543,994 (GRCm39) A21T probably damaging Het
Pkn2 A G 3: 142,516,488 (GRCm39) V546A probably benign Het
Ppat T A 5: 77,067,711 (GRCm39) R260* probably null Het
Ppp1r13l C G 7: 19,104,081 (GRCm39) S187R probably benign Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
R3hdm1 A G 1: 128,081,129 (GRCm39) D55G possibly damaging Het
Rev1 A T 1: 38,113,488 (GRCm39) Y526* probably null Het
Rp1 A G 1: 4,418,221 (GRCm39) W964R probably benign Het
Sarnp A G 10: 128,669,247 (GRCm39) I35V probably damaging Het
Sec23a T C 12: 59,013,785 (GRCm39) N730S probably benign Het
Sh3tc2 A G 18: 62,122,577 (GRCm39) D446G probably benign Het
Sugct T A 13: 17,819,399 (GRCm39) I149F probably damaging Het
Tle2 A G 10: 81,416,152 (GRCm39) N142S probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trpm1 T A 7: 63,918,549 (GRCm39) Y1514N probably benign Het
Ubr4 C T 4: 139,180,002 (GRCm39) S259L unknown Het
Utp20 A T 10: 88,631,305 (GRCm39) L892Q probably benign Het
Zfp956 C T 6: 47,940,853 (GRCm39) T404M probably damaging Het
Other mutations in Sh3d19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Sh3d19 APN 3 86,005,492 (GRCm39) missense probably benign 0.01
IGL01483:Sh3d19 APN 3 86,022,103 (GRCm39) missense probably benign 0.09
IGL02272:Sh3d19 APN 3 86,028,474 (GRCm39) missense probably benign 0.02
IGL02308:Sh3d19 APN 3 86,001,017 (GRCm39) missense probably damaging 0.98
IGL02431:Sh3d19 APN 3 86,014,305 (GRCm39) missense probably damaging 1.00
R0277:Sh3d19 UTSW 3 86,033,978 (GRCm39) missense probably benign 0.00
R0323:Sh3d19 UTSW 3 86,033,978 (GRCm39) missense probably benign 0.00
R0624:Sh3d19 UTSW 3 86,022,213 (GRCm39) missense possibly damaging 0.96
R0639:Sh3d19 UTSW 3 86,014,280 (GRCm39) missense probably benign 0.00
R0673:Sh3d19 UTSW 3 86,014,280 (GRCm39) missense probably benign 0.00
R1148:Sh3d19 UTSW 3 86,014,634 (GRCm39) missense possibly damaging 0.82
R1148:Sh3d19 UTSW 3 86,014,634 (GRCm39) missense possibly damaging 0.82
R1569:Sh3d19 UTSW 3 86,033,951 (GRCm39) missense possibly damaging 0.83
R1738:Sh3d19 UTSW 3 86,027,913 (GRCm39) missense probably damaging 1.00
R3911:Sh3d19 UTSW 3 86,014,534 (GRCm39) missense possibly damaging 0.62
R3913:Sh3d19 UTSW 3 85,992,083 (GRCm39) missense probably damaging 0.97
R4246:Sh3d19 UTSW 3 86,033,995 (GRCm39) missense probably benign 0.06
R4327:Sh3d19 UTSW 3 86,031,020 (GRCm39) missense probably benign
R4663:Sh3d19 UTSW 3 86,030,570 (GRCm39) missense probably benign 0.06
R4730:Sh3d19 UTSW 3 86,024,171 (GRCm39) missense possibly damaging 0.89
R4812:Sh3d19 UTSW 3 86,031,074 (GRCm39) missense probably damaging 1.00
R4841:Sh3d19 UTSW 3 86,031,049 (GRCm39) missense probably damaging 1.00
R4842:Sh3d19 UTSW 3 86,031,049 (GRCm39) missense probably damaging 1.00
R5814:Sh3d19 UTSW 3 86,033,911 (GRCm39) missense probably benign 0.00
R6279:Sh3d19 UTSW 3 86,011,409 (GRCm39) missense possibly damaging 0.77
R6504:Sh3d19 UTSW 3 85,992,643 (GRCm39) missense probably benign
R6806:Sh3d19 UTSW 3 86,011,640 (GRCm39) missense probably damaging 0.99
R6916:Sh3d19 UTSW 3 85,992,218 (GRCm39) missense probably benign 0.03
R7012:Sh3d19 UTSW 3 85,992,320 (GRCm39) missense probably benign 0.01
R7147:Sh3d19 UTSW 3 86,011,584 (GRCm39) missense possibly damaging 0.71
R7590:Sh3d19 UTSW 3 86,022,213 (GRCm39) missense possibly damaging 0.96
R7739:Sh3d19 UTSW 3 86,031,038 (GRCm39) missense probably benign
R7971:Sh3d19 UTSW 3 86,022,103 (GRCm39) missense probably benign 0.09
R8321:Sh3d19 UTSW 3 86,001,071 (GRCm39) missense probably damaging 1.00
R8354:Sh3d19 UTSW 3 86,014,329 (GRCm39) missense probably benign 0.00
R8415:Sh3d19 UTSW 3 85,992,363 (GRCm39) missense probably benign 0.01
R8454:Sh3d19 UTSW 3 86,014,329 (GRCm39) missense probably benign 0.00
R8480:Sh3d19 UTSW 3 85,992,184 (GRCm39) missense probably benign 0.03
R8703:Sh3d19 UTSW 3 86,014,568 (GRCm39) missense probably damaging 0.99
R8807:Sh3d19 UTSW 3 85,992,659 (GRCm39) missense probably benign 0.00
R9032:Sh3d19 UTSW 3 86,033,992 (GRCm39) missense probably damaging 1.00
R9085:Sh3d19 UTSW 3 86,033,992 (GRCm39) missense probably damaging 1.00
R9171:Sh3d19 UTSW 3 85,990,918 (GRCm39) start gained probably benign
R9219:Sh3d19 UTSW 3 86,030,507 (GRCm39) missense possibly damaging 0.94
R9610:Sh3d19 UTSW 3 86,014,529 (GRCm39) missense possibly damaging 0.94
R9777:Sh3d19 UTSW 3 86,028,483 (GRCm39) missense probably benign 0.00
X0027:Sh3d19 UTSW 3 86,028,010 (GRCm39) missense probably damaging 1.00
Z1177:Sh3d19 UTSW 3 86,014,331 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAAGCTCTTCACGCCTTCGC -3'
(R):5'- TAAAGCTTTCTGGGCCAGGG -3'

Sequencing Primer
(F):5'- TGAGATCTAACGCTGACTCATGGC -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
Posted On 2019-09-13