Incidental Mutation 'IGL01672:Sdk1'
ID 103524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdk1
Ensembl Gene ENSMUSG00000039683
Gene Name sidekick cell adhesion molecule 1
Synonyms 6720466O15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01672
Quality Score
Status
Chromosome 5
Chromosomal Location 141227245-142201341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142170930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1931 (M1931K)
Ref Sequence ENSEMBL: ENSMUSP00000082928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074546] [ENSMUST00000085774]
AlphaFold Q3UH53
Predicted Effect probably benign
Transcript: ENSMUST00000074546
AA Change: M1671K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000074133
Gene: ENSMUSG00000039683
AA Change: M1671K

DomainStartEndE-ValueType
IGc2 28 91 4.67e-4 SMART
IGc2 121 187 1.45e-9 SMART
IGc2 214 282 1.58e-10 SMART
IG 302 387 1.8e-5 SMART
FN3 390 474 7.39e-14 SMART
FN3 490 576 8.96e-13 SMART
FN3 591 679 1.95e-4 SMART
FN3 694 776 2e-10 SMART
FN3 792 879 4.22e-9 SMART
FN3 896 983 1.41e-10 SMART
FN3 999 1084 2.7e-7 SMART
FN3 1100 1183 1.3e-9 SMART
FN3 1199 1284 2.19e-7 SMART
FN3 1300 1408 5.73e-11 SMART
FN3 1424 1509 1.79e-12 SMART
FN3 1524 1611 1.16e-11 SMART
FN3 1625 1709 1.32e-10 SMART
transmembrane domain 1730 1752 N/A INTRINSIC
low complexity region 1806 1815 N/A INTRINSIC
low complexity region 1846 1858 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085774
AA Change: M1931K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: M1931K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 67 80 N/A INTRINSIC
IGc2 99 158 2.77e-6 SMART
IG 179 264 3.74e-3 SMART
IGc2 288 351 4.67e-4 SMART
IGc2 381 447 1.45e-9 SMART
IGc2 474 542 1.58e-10 SMART
IG 562 647 1.8e-5 SMART
FN3 650 734 7.39e-14 SMART
FN3 750 836 8.96e-13 SMART
FN3 851 939 1.95e-4 SMART
FN3 954 1036 2e-10 SMART
FN3 1052 1139 4.22e-9 SMART
FN3 1156 1243 1.41e-10 SMART
FN3 1259 1344 2.7e-7 SMART
FN3 1360 1443 1.3e-9 SMART
FN3 1459 1544 2.19e-7 SMART
FN3 1560 1668 5.73e-11 SMART
FN3 1684 1769 1.79e-12 SMART
FN3 1784 1871 1.16e-11 SMART
FN3 1885 1969 1.32e-10 SMART
transmembrane domain 1990 2012 N/A INTRINSIC
low complexity region 2066 2075 N/A INTRINSIC
low complexity region 2106 2118 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,316 (GRCm39) E203G probably damaging Het
Ano1 G T 7: 144,209,412 (GRCm39) Q206K probably damaging Het
Ap4e1 T A 2: 126,894,109 (GRCm39) S620T probably damaging Het
Arfip1 A T 3: 84,455,339 (GRCm39) probably benign Het
Atp8a2 A T 14: 59,928,982 (GRCm39) M1024K probably benign Het
Brap T C 5: 121,816,908 (GRCm39) probably benign Het
Calcrl T A 2: 84,175,414 (GRCm39) T287S probably damaging Het
Clptm1l G A 13: 73,755,992 (GRCm39) probably null Het
Cpb1 T A 3: 20,329,585 (GRCm39) Q47L probably null Het
Cse1l T C 2: 166,771,887 (GRCm39) I402T probably damaging Het
Dnah17 A G 11: 117,932,986 (GRCm39) S3591P probably damaging Het
Dst T G 1: 34,264,774 (GRCm39) I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 (GRCm39) R2194* probably null Het
Ecpas A G 4: 58,814,041 (GRCm39) V1355A probably benign Het
Eno4 A G 19: 58,931,977 (GRCm39) N30S possibly damaging Het
Ero1a A C 14: 45,529,887 (GRCm39) S349A probably benign Het
Fat1 C T 8: 45,493,737 (GRCm39) T3938I probably benign Het
Focad T C 4: 88,278,827 (GRCm39) probably null Het
Gnai3 A T 3: 108,016,775 (GRCm39) I343N probably damaging Het
Golph3 T C 15: 12,349,643 (GRCm39) V221A probably benign Het
Gpr153 C A 4: 152,364,370 (GRCm39) S142* probably null Het
Itpr1 C A 6: 108,357,993 (GRCm39) Y557* probably null Het
Nat8f5 A G 6: 85,794,934 (GRCm39) Y9H probably damaging Het
Nbas T C 12: 13,429,650 (GRCm39) V1045A possibly damaging Het
Nol8 T C 13: 49,828,883 (GRCm39) V1047A possibly damaging Het
Or2t48 A C 11: 58,419,948 (GRCm39) L288R probably benign Het
Or5p1 T A 7: 107,916,725 (GRCm39) V208E probably benign Het
Osbpl1a G A 18: 12,899,881 (GRCm39) T178I probably damaging Het
Palld T A 8: 62,330,536 (GRCm39) I114F probably benign Het
Pcca A T 14: 122,927,557 (GRCm39) Y440F probably benign Het
Pclo T C 5: 14,728,549 (GRCm39) probably benign Het
Piwil1 T C 5: 128,827,037 (GRCm39) M599T possibly damaging Het
Pkd1l2 T A 8: 117,807,471 (GRCm39) Y189F possibly damaging Het
Plscr3 A G 11: 69,738,508 (GRCm39) K91R possibly damaging Het
Rars1 A T 11: 35,699,380 (GRCm39) C638S probably damaging Het
Relb T A 7: 19,345,619 (GRCm39) H406L probably benign Het
Ros1 G T 10: 51,977,899 (GRCm39) T1449K possibly damaging Het
Samd3 A T 10: 26,146,067 (GRCm39) N364I possibly damaging Het
Scn2a T A 2: 65,582,278 (GRCm39) I1542N probably damaging Het
Sphk2 T C 7: 45,361,077 (GRCm39) D309G possibly damaging Het
Stil T C 4: 114,889,986 (GRCm39) S825P probably damaging Het
Swt1 C T 1: 151,270,359 (GRCm39) probably null Het
Virma C T 4: 11,527,792 (GRCm39) R1228C probably damaging Het
Xirp2 T A 2: 67,338,846 (GRCm39) H362Q probably benign Het
Zfp451 C A 1: 33,801,247 (GRCm39) M1056I probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L probably benign Het
Other mutations in Sdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Sdk1 APN 5 142,071,361 (GRCm39) missense probably damaging 1.00
IGL00945:Sdk1 APN 5 142,070,368 (GRCm39) critical splice donor site probably null
IGL00946:Sdk1 APN 5 142,070,368 (GRCm39) critical splice donor site probably null
IGL01394:Sdk1 APN 5 141,598,970 (GRCm39) missense probably benign 0.03
IGL01398:Sdk1 APN 5 141,923,332 (GRCm39) missense probably benign 0.00
IGL01410:Sdk1 APN 5 142,197,875 (GRCm39) missense probably benign 0.30
IGL01525:Sdk1 APN 5 141,985,675 (GRCm39) missense probably damaging 1.00
IGL01548:Sdk1 APN 5 142,071,520 (GRCm39) missense possibly damaging 0.95
IGL01676:Sdk1 APN 5 142,113,591 (GRCm39) missense probably damaging 0.99
IGL01679:Sdk1 APN 5 142,031,919 (GRCm39) missense probably benign
IGL01929:Sdk1 APN 5 141,938,785 (GRCm39) missense probably damaging 0.99
IGL01970:Sdk1 APN 5 142,071,437 (GRCm39) missense possibly damaging 0.67
IGL02016:Sdk1 APN 5 142,020,184 (GRCm39) missense possibly damaging 0.85
IGL02060:Sdk1 APN 5 141,938,767 (GRCm39) missense possibly damaging 0.79
IGL02457:Sdk1 APN 5 141,938,771 (GRCm39) missense probably damaging 1.00
IGL02634:Sdk1 APN 5 141,595,787 (GRCm39) missense probably benign 0.01
IGL02637:Sdk1 APN 5 142,080,327 (GRCm39) missense probably damaging 1.00
IGL02731:Sdk1 APN 5 142,158,299 (GRCm39) missense probably damaging 1.00
IGL03180:Sdk1 APN 5 142,071,497 (GRCm39) missense probably damaging 0.96
IGL03259:Sdk1 APN 5 141,938,788 (GRCm39) nonsense probably null
PIT4453001:Sdk1 UTSW 5 142,197,793 (GRCm39) missense probably benign 0.00
PIT4544001:Sdk1 UTSW 5 141,941,987 (GRCm39) missense probably benign 0.08
R0149:Sdk1 UTSW 5 141,842,809 (GRCm39) intron probably benign
R0173:Sdk1 UTSW 5 142,159,564 (GRCm39) splice site probably benign
R0240:Sdk1 UTSW 5 141,984,502 (GRCm39) missense probably damaging 1.00
R0240:Sdk1 UTSW 5 141,984,502 (GRCm39) missense probably damaging 1.00
R0242:Sdk1 UTSW 5 142,129,677 (GRCm39) splice site probably benign
R0245:Sdk1 UTSW 5 141,940,713 (GRCm39) missense probably benign 0.02
R0270:Sdk1 UTSW 5 142,070,321 (GRCm39) missense possibly damaging 0.79
R0398:Sdk1 UTSW 5 141,948,476 (GRCm39) missense probably benign 0.05
R0401:Sdk1 UTSW 5 142,031,916 (GRCm39) missense possibly damaging 0.55
R0501:Sdk1 UTSW 5 141,923,473 (GRCm39) missense probably benign
R0558:Sdk1 UTSW 5 142,117,820 (GRCm39) missense probably damaging 1.00
R0652:Sdk1 UTSW 5 141,940,713 (GRCm39) missense probably benign 0.02
R0834:Sdk1 UTSW 5 141,227,779 (GRCm39) missense probably benign
R0962:Sdk1 UTSW 5 142,147,630 (GRCm39) missense probably damaging 1.00
R1424:Sdk1 UTSW 5 142,147,621 (GRCm39) missense probably damaging 1.00
R1438:Sdk1 UTSW 5 142,024,078 (GRCm39) missense probably damaging 0.96
R1517:Sdk1 UTSW 5 142,113,591 (GRCm39) missense probably damaging 0.99
R1519:Sdk1 UTSW 5 141,985,705 (GRCm39) missense probably benign 0.00
R1539:Sdk1 UTSW 5 142,080,354 (GRCm39) missense probably damaging 1.00
R1574:Sdk1 UTSW 5 141,984,634 (GRCm39) missense probably benign 0.03
R1574:Sdk1 UTSW 5 141,984,634 (GRCm39) missense probably benign 0.03
R1673:Sdk1 UTSW 5 141,934,261 (GRCm39) missense possibly damaging 0.90
R1686:Sdk1 UTSW 5 142,020,292 (GRCm39) missense probably benign 0.00
R1806:Sdk1 UTSW 5 142,147,681 (GRCm39) missense probably benign
R1806:Sdk1 UTSW 5 141,598,950 (GRCm39) missense probably damaging 1.00
R1925:Sdk1 UTSW 5 142,171,040 (GRCm39) missense probably benign 0.09
R1956:Sdk1 UTSW 5 142,080,336 (GRCm39) missense probably damaging 1.00
R1976:Sdk1 UTSW 5 142,129,573 (GRCm39) missense probably damaging 1.00
R2124:Sdk1 UTSW 5 142,170,943 (GRCm39) missense possibly damaging 0.70
R2152:Sdk1 UTSW 5 141,778,699 (GRCm39) missense probably damaging 1.00
R2186:Sdk1 UTSW 5 142,032,047 (GRCm39) missense probably benign 0.00
R2187:Sdk1 UTSW 5 142,100,329 (GRCm39) missense probably damaging 1.00
R2306:Sdk1 UTSW 5 141,948,455 (GRCm39) missense probably benign 0.00
R2520:Sdk1 UTSW 5 142,071,526 (GRCm39) missense probably benign 0.19
R2698:Sdk1 UTSW 5 142,197,805 (GRCm39) missense possibly damaging 0.95
R2763:Sdk1 UTSW 5 142,070,306 (GRCm39) missense possibly damaging 0.90
R3023:Sdk1 UTSW 5 142,031,991 (GRCm39) missense probably benign
R3500:Sdk1 UTSW 5 141,992,371 (GRCm39) splice site probably benign
R3613:Sdk1 UTSW 5 142,105,441 (GRCm39) missense probably damaging 1.00
R3824:Sdk1 UTSW 5 141,921,804 (GRCm39) missense probably benign
R3916:Sdk1 UTSW 5 142,036,999 (GRCm39) missense probably damaging 0.98
R3917:Sdk1 UTSW 5 142,036,999 (GRCm39) missense probably damaging 0.98
R4158:Sdk1 UTSW 5 142,100,154 (GRCm39) missense probably benign 0.00
R4160:Sdk1 UTSW 5 142,100,154 (GRCm39) missense probably benign 0.00
R4161:Sdk1 UTSW 5 142,100,154 (GRCm39) missense probably benign 0.00
R4386:Sdk1 UTSW 5 142,080,381 (GRCm39) missense probably damaging 0.99
R4649:Sdk1 UTSW 5 141,992,380 (GRCm39) missense probably damaging 1.00
R4701:Sdk1 UTSW 5 142,170,986 (GRCm39) missense probably damaging 1.00
R4780:Sdk1 UTSW 5 141,944,993 (GRCm39) missense probably damaging 0.97
R4787:Sdk1 UTSW 5 141,568,168 (GRCm39) missense probably benign
R4825:Sdk1 UTSW 5 141,568,049 (GRCm39) missense probably benign 0.11
R4853:Sdk1 UTSW 5 142,132,018 (GRCm39) missense probably damaging 1.00
R4857:Sdk1 UTSW 5 142,147,531 (GRCm39) missense probably benign 0.01
R4928:Sdk1 UTSW 5 141,842,758 (GRCm39) intron probably benign
R5111:Sdk1 UTSW 5 142,113,600 (GRCm39) missense probably damaging 1.00
R5188:Sdk1 UTSW 5 141,942,015 (GRCm39) critical splice donor site probably null
R5246:Sdk1 UTSW 5 142,100,317 (GRCm39) missense possibly damaging 0.72
R5273:Sdk1 UTSW 5 141,984,583 (GRCm39) missense probably damaging 0.99
R5484:Sdk1 UTSW 5 142,085,941 (GRCm39) missense probably damaging 1.00
R5525:Sdk1 UTSW 5 142,171,020 (GRCm39) missense possibly damaging 0.84
R5578:Sdk1 UTSW 5 141,598,880 (GRCm39) nonsense probably null
R5593:Sdk1 UTSW 5 141,941,879 (GRCm39) missense probably damaging 0.98
R5654:Sdk1 UTSW 5 141,921,853 (GRCm39) missense probably damaging 0.96
R5672:Sdk1 UTSW 5 142,173,900 (GRCm39) missense possibly damaging 0.94
R5768:Sdk1 UTSW 5 142,129,626 (GRCm39) missense probably benign 0.00
R5781:Sdk1 UTSW 5 141,921,803 (GRCm39) missense probably benign 0.00
R5846:Sdk1 UTSW 5 142,100,148 (GRCm39) missense probably damaging 1.00
R5851:Sdk1 UTSW 5 141,948,424 (GRCm39) missense probably benign 0.00
R6164:Sdk1 UTSW 5 142,117,824 (GRCm39) missense probably damaging 1.00
R6235:Sdk1 UTSW 5 142,020,181 (GRCm39) missense possibly damaging 0.85
R6364:Sdk1 UTSW 5 141,948,464 (GRCm39) missense probably benign 0.00
R6453:Sdk1 UTSW 5 142,082,676 (GRCm39) missense probably damaging 1.00
R6892:Sdk1 UTSW 5 142,032,053 (GRCm39) missense probably benign 0.00
R6996:Sdk1 UTSW 5 142,197,769 (GRCm39) missense probably benign 0.16
R7003:Sdk1 UTSW 5 142,082,489 (GRCm39) missense probably benign 0.01
R7022:Sdk1 UTSW 5 142,080,412 (GRCm39) splice site probably null
R7027:Sdk1 UTSW 5 142,082,481 (GRCm39) splice site probably null
R7098:Sdk1 UTSW 5 142,082,625 (GRCm39) missense probably damaging 0.96
R7107:Sdk1 UTSW 5 142,067,471 (GRCm39) missense probably damaging 0.99
R7203:Sdk1 UTSW 5 142,031,931 (GRCm39) missense probably benign 0.08
R7313:Sdk1 UTSW 5 141,923,377 (GRCm39) missense probably damaging 0.97
R7363:Sdk1 UTSW 5 142,173,897 (GRCm39) missense probably benign 0.05
R7375:Sdk1 UTSW 5 141,984,598 (GRCm39) missense probably benign 0.01
R7446:Sdk1 UTSW 5 142,130,731 (GRCm39) missense probably damaging 1.00
R7527:Sdk1 UTSW 5 141,778,731 (GRCm39) missense possibly damaging 0.61
R7598:Sdk1 UTSW 5 141,595,753 (GRCm39) nonsense probably null
R7747:Sdk1 UTSW 5 142,070,246 (GRCm39) missense probably damaging 1.00
R7810:Sdk1 UTSW 5 141,923,434 (GRCm39) missense probably benign
R7985:Sdk1 UTSW 5 142,113,602 (GRCm39) missense probably damaging 1.00
R8129:Sdk1 UTSW 5 142,177,648 (GRCm39) missense probably benign 0.10
R8217:Sdk1 UTSW 5 142,197,713 (GRCm39) missense possibly damaging 0.81
R8249:Sdk1 UTSW 5 142,173,770 (GRCm39) critical splice acceptor site probably null
R8376:Sdk1 UTSW 5 142,144,376 (GRCm39) missense possibly damaging 0.83
R8779:Sdk1 UTSW 5 141,948,457 (GRCm39) missense probably benign 0.00
R8807:Sdk1 UTSW 5 142,071,382 (GRCm39) missense probably damaging 1.00
R8907:Sdk1 UTSW 5 142,070,278 (GRCm39) missense probably damaging 0.99
R8942:Sdk1 UTSW 5 142,082,598 (GRCm39) missense probably damaging 1.00
R8945:Sdk1 UTSW 5 141,598,935 (GRCm39) missense probably benign
R9006:Sdk1 UTSW 5 141,923,321 (GRCm39) missense probably damaging 1.00
R9249:Sdk1 UTSW 5 142,129,550 (GRCm39) missense probably damaging 1.00
R9275:Sdk1 UTSW 5 141,941,953 (GRCm39) missense possibly damaging 0.95
R9345:Sdk1 UTSW 5 142,147,708 (GRCm39) missense probably benign
R9463:Sdk1 UTSW 5 141,948,548 (GRCm39) missense probably benign 0.31
R9549:Sdk1 UTSW 5 141,940,657 (GRCm39) missense possibly damaging 0.95
R9572:Sdk1 UTSW 5 141,595,784 (GRCm39) missense probably damaging 1.00
R9602:Sdk1 UTSW 5 142,071,353 (GRCm39) missense probably damaging 0.99
R9703:Sdk1 UTSW 5 142,100,283 (GRCm39) missense possibly damaging 0.95
R9720:Sdk1 UTSW 5 142,197,796 (GRCm39) missense probably damaging 0.96
R9771:Sdk1 UTSW 5 142,082,624 (GRCm39) missense probably damaging 0.99
X0017:Sdk1 UTSW 5 141,984,535 (GRCm39) missense probably benign 0.00
Z1176:Sdk1 UTSW 5 141,945,065 (GRCm39) missense probably null 0.58
Z1177:Sdk1 UTSW 5 141,948,463 (GRCm39) missense possibly damaging 0.87
Posted On 2014-01-21