Incidental Mutation 'R0834:Sdk1'
ID 77718
Institutional Source Beutler Lab
Gene Symbol Sdk1
Ensembl Gene ENSMUSG00000039683
Gene Name sidekick cell adhesion molecule 1
Synonyms 6720466O15Rik
MMRRC Submission 039013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R0834 (G1)
Quality Score 129
Status Validated
Chromosome 5
Chromosomal Location 141227245-142201341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141227779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 59 (L59S)
Ref Sequence ENSEMBL: ENSMUSP00000082928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085774]
AlphaFold Q3UH53
Predicted Effect probably benign
Transcript: ENSMUST00000085774
AA Change: L59S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: L59S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129831
Meta Mutation Damage Score 0.0956 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript 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
IGL01672:Sdk1 APN 5 142,170,930 (GRCm39) missense probably benign 0.33
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
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
Predicted Primers PCR Primer
(F):5'- GCATTTCCTCGCTCGCTGACAA -3'
(R):5'- TCATAATACAGACCAGGTGGAGCCC -3'

Sequencing Primer
(F):5'- CTCGCTGCTCATCGGAG -3'
(R):5'- GGTGGAGCCCACAAAGTC -3'
Posted On 2013-10-16