Incidental Mutation 'R6734:Shank1'
ID 528342
Institutional Source Beutler Lab
Gene Symbol Shank1
Ensembl Gene ENSMUSG00000038738
Gene Name SH3 and multiple ankyrin repeat domains 1
Synonyms
MMRRC Submission 044852-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R6734 (G1)
Quality Score 156.008
Status Validated
Chromosome 7
Chromosomal Location 43959677-44009996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44003110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1610 (A1610S)
Ref Sequence ENSEMBL: ENSMUSP00000103571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107934] [ENSMUST00000107935] [ENSMUST00000107938]
AlphaFold D3YZU1
Predicted Effect probably benign
Transcript: ENSMUST00000107934
AA Change: A1601S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738
AA Change: A1601S

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
PDZ 663 752 2.12e-13 SMART
Blast:PDZ 795 830 5e-11 BLAST
low complexity region 920 941 N/A INTRINSIC
low complexity region 955 982 N/A INTRINSIC
low complexity region 993 1023 N/A INTRINSIC
low complexity region 1051 1080 N/A INTRINSIC
low complexity region 1123 1138 N/A INTRINSIC
low complexity region 1162 1175 N/A INTRINSIC
low complexity region 1179 1220 N/A INTRINSIC
low complexity region 1256 1275 N/A INTRINSIC
low complexity region 1298 1323 N/A INTRINSIC
low complexity region 1348 1359 N/A INTRINSIC
low complexity region 1369 1404 N/A INTRINSIC
low complexity region 1450 1466 N/A INTRINSIC
low complexity region 1512 1532 N/A INTRINSIC
low complexity region 1539 1555 N/A INTRINSIC
low complexity region 1557 1570 N/A INTRINSIC
low complexity region 1580 1614 N/A INTRINSIC
low complexity region 1633 1667 N/A INTRINSIC
low complexity region 1685 1720 N/A INTRINSIC
low complexity region 1735 1746 N/A INTRINSIC
low complexity region 1776 1787 N/A INTRINSIC
low complexity region 1806 1823 N/A INTRINSIC
low complexity region 1834 1852 N/A INTRINSIC
low complexity region 1893 1907 N/A INTRINSIC
low complexity region 1925 1936 N/A INTRINSIC
low complexity region 1942 1976 N/A INTRINSIC
low complexity region 1988 2004 N/A INTRINSIC
low complexity region 2009 2029 N/A INTRINSIC
low complexity region 2059 2083 N/A INTRINSIC
SAM 2092 2158 1.35e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107935
AA Change: A1602S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738
AA Change: A1602S

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
low complexity region 648 659 N/A INTRINSIC
PDZ 672 761 2.12e-13 SMART
Blast:PDZ 796 831 1e-10 BLAST
low complexity region 921 942 N/A INTRINSIC
low complexity region 956 983 N/A INTRINSIC
low complexity region 994 1024 N/A INTRINSIC
low complexity region 1052 1081 N/A INTRINSIC
low complexity region 1124 1139 N/A INTRINSIC
low complexity region 1163 1176 N/A INTRINSIC
low complexity region 1180 1221 N/A INTRINSIC
low complexity region 1257 1276 N/A INTRINSIC
low complexity region 1299 1324 N/A INTRINSIC
low complexity region 1349 1360 N/A INTRINSIC
low complexity region 1370 1405 N/A INTRINSIC
low complexity region 1451 1467 N/A INTRINSIC
low complexity region 1513 1533 N/A INTRINSIC
low complexity region 1540 1556 N/A INTRINSIC
low complexity region 1558 1571 N/A INTRINSIC
low complexity region 1581 1615 N/A INTRINSIC
low complexity region 1634 1668 N/A INTRINSIC
low complexity region 1686 1721 N/A INTRINSIC
low complexity region 1736 1747 N/A INTRINSIC
low complexity region 1777 1788 N/A INTRINSIC
low complexity region 1807 1824 N/A INTRINSIC
low complexity region 1835 1853 N/A INTRINSIC
low complexity region 1894 1908 N/A INTRINSIC
low complexity region 1926 1937 N/A INTRINSIC
low complexity region 1943 1977 N/A INTRINSIC
low complexity region 1989 2005 N/A INTRINSIC
low complexity region 2010 2030 N/A INTRINSIC
low complexity region 2060 2084 N/A INTRINSIC
SAM 2093 2159 1.35e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107938
AA Change: A1610S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738
AA Change: A1610S

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
Pfam:FERM_f0 73 156 6.6e-17 PFAM
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
low complexity region 648 659 N/A INTRINSIC
PDZ 672 761 2.12e-13 SMART
Blast:PDZ 804 839 5e-11 BLAST
low complexity region 929 950 N/A INTRINSIC
low complexity region 964 991 N/A INTRINSIC
low complexity region 1002 1032 N/A INTRINSIC
low complexity region 1060 1089 N/A INTRINSIC
low complexity region 1132 1147 N/A INTRINSIC
low complexity region 1171 1184 N/A INTRINSIC
low complexity region 1188 1229 N/A INTRINSIC
low complexity region 1265 1284 N/A INTRINSIC
low complexity region 1307 1332 N/A INTRINSIC
low complexity region 1357 1368 N/A INTRINSIC
low complexity region 1378 1413 N/A INTRINSIC
low complexity region 1459 1475 N/A INTRINSIC
low complexity region 1521 1541 N/A INTRINSIC
low complexity region 1548 1564 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
low complexity region 1589 1623 N/A INTRINSIC
low complexity region 1642 1676 N/A INTRINSIC
low complexity region 1694 1729 N/A INTRINSIC
low complexity region 1744 1755 N/A INTRINSIC
low complexity region 1785 1796 N/A INTRINSIC
low complexity region 1815 1832 N/A INTRINSIC
low complexity region 1843 1861 N/A INTRINSIC
low complexity region 1902 1916 N/A INTRINSIC
low complexity region 1934 1945 N/A INTRINSIC
low complexity region 1951 1985 N/A INTRINSIC
low complexity region 1997 2013 N/A INTRINSIC
low complexity region 2018 2038 N/A INTRINSIC
low complexity region 2068 2092 N/A INTRINSIC
SAM 2101 2167 1.35e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154776
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ano6 A G 15: 95,847,417 (GRCm39) K554R probably damaging Het
Arhgef10 A T 8: 15,025,053 (GRCm39) I703F probably damaging Het
Bbs1 T C 19: 4,953,924 (GRCm39) S80G probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Camk1 C A 6: 113,311,345 (GRCm39) R352L probably benign Het
Cand1 G A 10: 119,047,897 (GRCm39) P531L possibly damaging Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Col24a1 C A 3: 145,214,429 (GRCm39) P1384Q probably benign Het
Csmd2 C A 4: 128,357,606 (GRCm39) T1689K probably benign Het
Cyp26a1 T A 19: 37,689,660 (GRCm39) L452H probably damaging Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dennd6a G T 14: 26,329,774 (GRCm39) R115L possibly damaging Het
Eml2 T A 7: 18,934,432 (GRCm39) V377E probably benign Het
Fam135b T C 15: 71,334,629 (GRCm39) E855G probably benign Het
Fam149a A T 8: 45,834,478 (GRCm39) I107K probably benign Het
Fam227b A T 2: 125,968,896 (GRCm39) Y59* probably null Het
Fbn2 T C 18: 58,169,032 (GRCm39) E2249G probably damaging Het
Flrt1 T C 19: 7,073,524 (GRCm39) D341G possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gsdma2 A G 11: 98,540,416 (GRCm39) T112A possibly damaging Het
Klhl24 T C 16: 19,926,279 (GRCm39) V269A probably damaging Het
Lcorl A G 5: 45,890,839 (GRCm39) S505P probably damaging Het
Liph A G 16: 21,802,707 (GRCm39) S121P probably damaging Het
Lrp4 G A 2: 91,316,242 (GRCm39) V787M possibly damaging Het
Lrrd1 A C 5: 3,900,226 (GRCm39) D177A possibly damaging Het
Mbd1 G A 18: 74,409,114 (GRCm39) R399H probably damaging Het
Naa25 C T 5: 121,576,888 (GRCm39) T879M possibly damaging Het
Naa35 T G 13: 59,756,005 (GRCm39) L147R possibly damaging Het
Ninl C A 2: 150,787,003 (GRCm39) probably null Het
Nrap T C 19: 56,333,941 (GRCm39) D972G probably damaging Het
Or9k7 A G 10: 130,046,126 (GRCm39) F291S probably benign Het
Pdzd2 T C 15: 12,592,551 (GRCm39) E31G probably damaging Het
Plec C T 15: 76,078,603 (GRCm39) E41K probably damaging Het
Plxnb1 A T 9: 108,937,988 (GRCm39) K1245* probably null Het
Ppfia1 T C 7: 144,032,790 (GRCm39) T1263A probably damaging Het
Prex2 G A 1: 11,150,283 (GRCm39) V152I probably damaging Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prss3l T C 6: 41,422,321 (GRCm39) Y28C probably damaging Het
Prune2 T G 19: 16,981,097 (GRCm39) F85V probably damaging Het
Rrp1b T G 17: 32,274,278 (GRCm39) probably benign Het
Sec62 A G 3: 30,864,609 (GRCm39) T158A probably benign Het
Sema6a G A 18: 47,412,236 (GRCm39) T526I probably benign Het
Slc24a4 T C 12: 102,185,259 (GRCm39) V123A probably damaging Het
Stk11ip T C 1: 75,509,013 (GRCm39) V714A probably benign Het
Tas1r3 T C 4: 155,945,257 (GRCm39) T655A probably damaging Het
Tns2 G T 15: 102,011,551 (GRCm39) L10F probably damaging Het
Trmt10c A G 16: 55,854,489 (GRCm39) V382A probably benign Het
Unc45a G C 7: 79,986,746 (GRCm39) T149R probably damaging Het
Zhx3 T G 2: 160,623,640 (GRCm39) I176L probably damaging Het
Zscan12 T A 13: 21,552,966 (GRCm39) C263* probably null Het
Other mutations in Shank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Shank1 APN 7 44,003,662 (GRCm39) missense possibly damaging 0.89
IGL01293:Shank1 APN 7 44,003,660 (GRCm39) missense possibly damaging 0.59
IGL01319:Shank1 APN 7 44,002,547 (GRCm39) missense possibly damaging 0.93
IGL01347:Shank1 APN 7 43,991,544 (GRCm39) missense unknown
IGL01621:Shank1 APN 7 44,001,023 (GRCm39) missense unknown
IGL01621:Shank1 APN 7 43,991,889 (GRCm39) missense unknown
IGL01964:Shank1 APN 7 43,975,102 (GRCm39) missense unknown
IGL02309:Shank1 APN 7 43,962,266 (GRCm39) missense unknown
IGL02325:Shank1 APN 7 43,976,504 (GRCm39) nonsense probably null
IGL02387:Shank1 APN 7 44,006,361 (GRCm39) missense possibly damaging 0.77
IGL02958:Shank1 APN 7 44,003,897 (GRCm39) missense possibly damaging 0.59
R0098:Shank1 UTSW 7 43,962,709 (GRCm39) missense unknown
R0098:Shank1 UTSW 7 43,962,709 (GRCm39) missense unknown
R0197:Shank1 UTSW 7 44,001,718 (GRCm39) missense unknown
R0326:Shank1 UTSW 7 43,968,594 (GRCm39) missense unknown
R0365:Shank1 UTSW 7 44,003,401 (GRCm39) missense possibly damaging 0.89
R0883:Shank1 UTSW 7 44,001,718 (GRCm39) missense unknown
R1033:Shank1 UTSW 7 44,006,220 (GRCm39) missense possibly damaging 0.77
R1390:Shank1 UTSW 7 44,006,462 (GRCm39) missense probably damaging 1.00
R1453:Shank1 UTSW 7 43,965,499 (GRCm39) missense unknown
R1594:Shank1 UTSW 7 43,976,647 (GRCm39) nonsense probably null
R1713:Shank1 UTSW 7 43,969,161 (GRCm39) missense unknown
R1783:Shank1 UTSW 7 44,002,161 (GRCm39) missense possibly damaging 0.70
R1869:Shank1 UTSW 7 43,991,539 (GRCm39) nonsense probably null
R1870:Shank1 UTSW 7 43,991,539 (GRCm39) nonsense probably null
R1959:Shank1 UTSW 7 43,974,801 (GRCm39) missense unknown
R1962:Shank1 UTSW 7 43,993,747 (GRCm39) critical splice donor site probably null
R2406:Shank1 UTSW 7 44,006,376 (GRCm39) missense possibly damaging 0.94
R2509:Shank1 UTSW 7 44,001,547 (GRCm39) missense unknown
R2509:Shank1 UTSW 7 44,001,148 (GRCm39) missense unknown
R3877:Shank1 UTSW 7 43,994,416 (GRCm39) missense unknown
R4041:Shank1 UTSW 7 43,991,586 (GRCm39) missense unknown
R4249:Shank1 UTSW 7 43,969,160 (GRCm39) missense unknown
R4303:Shank1 UTSW 7 43,991,898 (GRCm39) missense unknown
R4431:Shank1 UTSW 7 43,969,076 (GRCm39) nonsense probably null
R4525:Shank1 UTSW 7 44,004,014 (GRCm39) missense possibly damaging 0.77
R4527:Shank1 UTSW 7 44,004,014 (GRCm39) missense possibly damaging 0.77
R4642:Shank1 UTSW 7 43,962,565 (GRCm39) missense unknown
R4722:Shank1 UTSW 7 43,962,638 (GRCm39) nonsense probably null
R4805:Shank1 UTSW 7 43,993,135 (GRCm39) missense unknown
R4874:Shank1 UTSW 7 43,965,497 (GRCm39) missense unknown
R4904:Shank1 UTSW 7 43,983,464 (GRCm39) intron probably benign
R4939:Shank1 UTSW 7 43,975,586 (GRCm39) missense unknown
R5394:Shank1 UTSW 7 44,002,075 (GRCm39) missense possibly damaging 0.85
R5410:Shank1 UTSW 7 44,001,246 (GRCm39) missense unknown
R5556:Shank1 UTSW 7 43,993,739 (GRCm39) intron probably benign
R5620:Shank1 UTSW 7 43,962,160 (GRCm39) missense unknown
R5656:Shank1 UTSW 7 44,002,310 (GRCm39) missense probably benign 0.33
R5688:Shank1 UTSW 7 44,003,911 (GRCm39) missense possibly damaging 0.77
R5740:Shank1 UTSW 7 44,003,164 (GRCm39) missense possibly damaging 0.89
R5801:Shank1 UTSW 7 44,006,240 (GRCm39) missense possibly damaging 0.77
R6179:Shank1 UTSW 7 44,006,630 (GRCm39) missense possibly damaging 0.58
R6186:Shank1 UTSW 7 44,001,990 (GRCm39) missense probably benign 0.18
R6245:Shank1 UTSW 7 44,001,677 (GRCm39) missense unknown
R6500:Shank1 UTSW 7 43,976,645 (GRCm39) missense unknown
R6602:Shank1 UTSW 7 44,001,760 (GRCm39) missense probably benign 0.03
R6655:Shank1 UTSW 7 43,976,644 (GRCm39) missense unknown
R6709:Shank1 UTSW 7 44,003,600 (GRCm39) missense probably benign 0.43
R6881:Shank1 UTSW 7 44,001,217 (GRCm39) missense unknown
R6902:Shank1 UTSW 7 44,006,239 (GRCm39) missense probably benign 0.39
R6975:Shank1 UTSW 7 43,962,530 (GRCm39) splice site probably null
R6985:Shank1 UTSW 7 43,994,337 (GRCm39) missense unknown
R7072:Shank1 UTSW 7 43,994,370 (GRCm39) missense unknown
R7116:Shank1 UTSW 7 43,976,585 (GRCm39) missense unknown
R7117:Shank1 UTSW 7 43,976,585 (GRCm39) missense unknown
R7199:Shank1 UTSW 7 44,002,564 (GRCm39) missense possibly damaging 0.86
R7249:Shank1 UTSW 7 43,976,585 (GRCm39) missense unknown
R7252:Shank1 UTSW 7 43,976,585 (GRCm39) missense unknown
R7552:Shank1 UTSW 7 44,002,452 (GRCm39) missense probably benign 0.00
R7653:Shank1 UTSW 7 43,969,093 (GRCm39) missense unknown
R7707:Shank1 UTSW 7 43,993,725 (GRCm39) missense unknown
R7801:Shank1 UTSW 7 44,001,022 (GRCm39) missense unknown
R7804:Shank1 UTSW 7 43,962,308 (GRCm39) missense unknown
R8122:Shank1 UTSW 7 43,983,015 (GRCm39) missense unknown
R8178:Shank1 UTSW 7 43,962,748 (GRCm39) critical splice donor site probably null
R8339:Shank1 UTSW 7 43,975,589 (GRCm39) missense unknown
R8463:Shank1 UTSW 7 44,003,605 (GRCm39) missense possibly damaging 0.77
R9005:Shank1 UTSW 7 44,002,409 (GRCm39) missense probably benign 0.00
R9023:Shank1 UTSW 7 43,968,531 (GRCm39) missense unknown
R9225:Shank1 UTSW 7 43,983,470 (GRCm39) missense unknown
R9234:Shank1 UTSW 7 43,962,579 (GRCm39) missense unknown
R9369:Shank1 UTSW 7 44,001,478 (GRCm39) missense unknown
R9432:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9433:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9434:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9467:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9474:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9475:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9476:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9477:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9519:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9544:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9545:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9598:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9633:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9698:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9699:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9701:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9755:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9783:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9784:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9800:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9802:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
R9803:Shank1 UTSW 7 43,962,342 (GRCm39) missense unknown
X0019:Shank1 UTSW 7 44,006,352 (GRCm39) missense probably damaging 1.00
X0065:Shank1 UTSW 7 44,001,353 (GRCm39) missense unknown
Z1088:Shank1 UTSW 7 44,001,590 (GRCm39) missense unknown
Z1177:Shank1 UTSW 7 43,975,068 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGAGTCTTGCCAACCTCTC -3'
(R):5'- AATTCCAGAATCTGTGCCAGGTG -3'

Sequencing Primer
(F):5'- CAACGAGGAGAACGGCCTTC -3'
(R):5'- AATCTGTGCCAGGTGGAGGG -3'
Posted On 2018-07-24