Incidental Mutation 'R7527:Sdk1'
ID 583056
Institutional Source Beutler Lab
Gene Symbol Sdk1
Ensembl Gene ENSMUSG00000039683
Gene Name sidekick cell adhesion molecule 1
Synonyms 6720466O15Rik
MMRRC Submission 045599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R7527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 141227245-142201341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 141778731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 236 (S236R)
Ref Sequence ENSEMBL: ENSMUSP00000082928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085774]
AlphaFold Q3UH53
Predicted Effect possibly damaging
Transcript: ENSMUST00000085774
AA Change: S236R

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: S236R

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,218,556 (GRCm39) probably null Het
Abcc10 A G 17: 46,623,830 (GRCm39) S810P possibly damaging Het
Adam22 T C 5: 8,132,239 (GRCm39) H138R possibly damaging Het
Adcyap1 T A 17: 93,510,257 (GRCm39) L95* probably null Het
Adgrl4 C A 3: 151,144,887 (GRCm39) T12N probably benign Het
Alpi T C 1: 87,026,677 (GRCm39) N438S probably benign Het
Ankrd44 T C 1: 54,687,483 (GRCm39) N979D probably benign Het
Ankrd60 A C 2: 173,419,966 (GRCm39) S57A probably benign Het
Arfgef3 G A 10: 18,522,377 (GRCm39) P550S probably benign Het
Btbd16 A T 7: 130,422,202 (GRCm39) D390V probably damaging Het
Cacna2d4 T C 6: 119,248,208 (GRCm39) V374A probably benign Het
Cdcp1 A T 9: 123,014,172 (GRCm39) F201I probably benign Het
Cdh15 A T 8: 123,588,865 (GRCm39) D313V probably damaging Het
Cfap157 A G 2: 32,669,890 (GRCm39) L231P possibly damaging Het
Chl1 T G 6: 103,688,162 (GRCm39) C1001G probably damaging Het
Cmtr2 A G 8: 110,948,770 (GRCm39) H360R probably damaging Het
Csmd1 C T 8: 16,261,732 (GRCm39) A922T probably damaging Het
Fancg C T 4: 43,010,116 (GRCm39) probably benign Het
Glt8d2 A T 10: 82,488,403 (GRCm39) S356T unknown Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gm9195 C T 14: 72,711,310 (GRCm39) C376Y possibly damaging Het
Gnai3 G A 3: 108,025,693 (GRCm39) R129C Het
Golph3 T G 15: 12,343,404 (GRCm39) probably null Het
H2bc18 T A 3: 96,177,186 (GRCm39) V40D possibly damaging Het
Hk1 C A 10: 62,140,561 (GRCm39) V105F probably damaging Het
Hoxd8 A G 2: 74,536,001 (GRCm39) Y37C probably damaging Het
Inava T A 1: 136,142,122 (GRCm39) D659V possibly damaging Het
Jun G T 4: 94,939,234 (GRCm39) P92Q probably damaging Het
Klhl14 C T 18: 21,784,597 (GRCm39) V277I probably damaging Het
Lrrc51 C T 7: 101,569,843 (GRCm39) probably null Het
Man2c1 T A 9: 57,045,100 (GRCm39) Y429* probably null Het
Myo18a T A 11: 77,734,406 (GRCm39) C1476S probably benign Het
Neb G C 2: 52,066,635 (GRCm39) T6155R probably damaging Het
Niban3 C G 8: 72,059,342 (GRCm39) C568W probably damaging Het
Nuf2 T C 1: 169,326,422 (GRCm39) E443G possibly damaging Het
Or10j5 C T 1: 172,784,511 (GRCm39) H50Y probably benign Het
Or4c15 A G 2: 88,760,434 (GRCm39) V75A probably benign Het
Or5d37 A T 2: 87,923,954 (GRCm39) C109S probably damaging Het
Or7g32 A G 9: 19,408,685 (GRCm39) I214V probably damaging Het
Osmr A G 15: 6,856,603 (GRCm39) S515P probably damaging Het
Pik3r5 T C 11: 68,367,177 (GRCm39) L84P probably damaging Het
Plcl1 T C 1: 55,736,273 (GRCm39) I538T probably damaging Het
Plxnb1 G T 9: 108,929,929 (GRCm39) V262L probably damaging Het
Pprc1 T C 19: 46,057,804 (GRCm39) S1320P unknown Het
Pramel47 A G 5: 95,490,409 (GRCm39) D347G probably benign Het
Prap1 G A 7: 139,676,120 (GRCm39) probably null Het
Psg23 A T 7: 18,348,699 (GRCm39) V36D probably damaging Het
Ptgr1 A G 4: 58,982,887 (GRCm39) Y49H probably damaging Het
Ptprr A G 10: 116,087,104 (GRCm39) T528A probably benign Het
Rapgef6 T C 11: 54,525,787 (GRCm39) S541P unknown Het
Rnf17 A T 14: 56,753,895 (GRCm39) D1534V probably damaging Het
Sepsecs A G 5: 52,801,393 (GRCm39) M423T possibly damaging Het
Serpina1f T G 12: 103,658,167 (GRCm39) Y246S probably benign Het
Sftpb T A 6: 72,282,048 (GRCm39) V46E possibly damaging Het
Slc4a1ap G A 5: 31,691,475 (GRCm39) V424I probably benign Het
Slc5a4b G A 10: 75,946,742 (GRCm39) T10M probably benign Het
Slc6a16 T C 7: 44,922,063 (GRCm39) W664R probably damaging Het
Snx8 T C 5: 140,341,827 (GRCm39) E138G probably benign Het
Sox6 T C 7: 115,376,408 (GRCm39) E108G probably benign Het
Sptan1 A T 2: 29,870,209 (GRCm39) I120F probably damaging Het
Sptbn4 T C 7: 27,075,015 (GRCm39) E1452G possibly damaging Het
Stac2 T A 11: 97,930,452 (GRCm39) E372V probably damaging Het
Taco1 A T 11: 105,962,795 (GRCm39) I161F probably damaging Het
Taf1d C A 9: 15,220,133 (GRCm39) D127E possibly damaging Het
Tenm2 T A 11: 36,097,803 (GRCm39) N482Y probably damaging Het
Tenm3 A G 8: 48,729,635 (GRCm39) V1457A possibly damaging Het
Tmem200c A T 17: 69,148,671 (GRCm39) H418L probably benign Het
Tmem81 T C 1: 132,435,884 (GRCm39) V230A probably benign Het
Tnn C T 1: 159,946,074 (GRCm39) V915I possibly damaging Het
Trav8d-2 A T 14: 53,280,154 (GRCm39) Y48F possibly damaging Het
Trpm2 T C 10: 77,801,894 (GRCm39) N57S probably benign Het
Ttn G A 2: 76,598,383 (GRCm39) T19510M probably damaging Het
Ubl7 T C 9: 57,820,167 (GRCm39) L73P unknown Het
Uso1 A G 5: 92,347,734 (GRCm39) D845G possibly damaging Het
Utrn G T 10: 12,277,126 (GRCm39) P3397Q possibly damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null 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
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
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'- GGACTATGTCATCAGAGCCAC -3'
(R):5'- GAGATGGATTGCACAGTGTCC -3'

Sequencing Primer
(F):5'- AGAGCCACCTTTTTCACATGGG -3'
(R):5'- GTGTCCCACCACACAGTG -3'
Posted On 2019-10-17