Incidental Mutation 'R5846:Sdk1'
ID 490472
Institutional Source Beutler Lab
Gene Symbol Sdk1
Ensembl Gene ENSMUSG00000039683
Gene Name sidekick cell adhesion molecule 1
Synonyms 6720466O15Rik
MMRRC Submission 044064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5846 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 141227245-142201341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142100148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1393 (Y1393H)
Ref Sequence ENSEMBL: ENSMUSP00000082928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074546] [ENSMUST00000085774]
AlphaFold Q3UH53
Predicted Effect possibly damaging
Transcript: ENSMUST00000074546
AA Change: Y1133H

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074133
Gene: ENSMUSG00000039683
AA Change: Y1133H

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 damaging
Transcript: ENSMUST00000085774
AA Change: Y1393H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: Y1393H

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
Meta Mutation Damage Score 0.7706 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 97% (67/69)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,377 (GRCm39) S335P unknown Het
Ace3 A T 11: 105,889,188 (GRCm39) I473F probably benign Het
Adcy2 T A 13: 68,886,707 (GRCm39) N281Y probably damaging Het
Adgra1 T A 7: 139,455,196 (GRCm39) W275R probably damaging Het
Apmap T C 2: 150,450,341 (GRCm39) D20G probably damaging Het
Arap2 T C 5: 62,807,116 (GRCm39) T1184A probably damaging Het
Atp13a2 T C 4: 140,722,907 (GRCm39) V303A possibly damaging Het
BC004004 A T 17: 29,501,282 (GRCm39) probably benign Het
C1s1 G A 6: 124,517,912 (GRCm39) P23S possibly damaging Het
C1s2 T A 6: 124,608,123 (GRCm39) N197Y probably damaging Het
Camsap3 A G 8: 3,653,980 (GRCm39) H539R probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Cct4 T C 11: 22,951,354 (GRCm39) probably benign Het
Chrm2 A T 6: 36,500,385 (GRCm39) T81S probably damaging Het
Dnaaf3 A T 7: 4,526,686 (GRCm39) S464T possibly damaging Het
Dnah10 T A 5: 124,900,437 (GRCm39) I3898N possibly damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dnajc13 T C 9: 104,067,584 (GRCm39) K1187E probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Dst C T 1: 34,234,942 (GRCm39) Q3674* probably null Het
Eef1a2 T C 2: 180,794,776 (GRCm39) Y141C probably damaging Het
Fads3 G T 19: 10,030,397 (GRCm39) Q178H probably null Het
Fbxw22 T A 9: 109,215,829 (GRCm39) M140L probably benign Het
Fndc7 A G 3: 108,788,707 (GRCm39) I178T probably damaging Het
Foxd1 T C 13: 98,491,549 (GRCm39) M141T probably damaging Het
H4c2 T C 13: 23,941,215 (GRCm39) V71A possibly damaging Het
Havcr2 T C 11: 46,360,343 (GRCm39) I141T probably benign Het
Hectd1 A C 12: 51,820,618 (GRCm39) N1190K probably damaging Het
Hook3 T A 8: 26,534,355 (GRCm39) probably benign Het
Hpgd T A 8: 56,760,702 (GRCm39) I133N possibly damaging Het
Itih2 T C 2: 10,102,714 (GRCm39) R807G probably benign Het
Klhl35 G A 7: 99,122,094 (GRCm39) G65D probably damaging Het
Lrch4 C G 5: 137,631,919 (GRCm39) C48W probably damaging Het
Mafa A G 15: 75,619,627 (GRCm39) S49P probably benign Het
Magi1 A G 6: 93,662,584 (GRCm39) V1170A probably damaging Het
Mprip A T 11: 59,649,380 (GRCm39) K1028M probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Numb G T 12: 83,923,521 (GRCm39) probably benign Het
Obscn A G 11: 58,929,435 (GRCm39) L6063P probably damaging Het
Or2y6 A G 11: 52,103,881 (GRCm39) *312Q probably null Het
Or6c6c A T 10: 129,540,756 (GRCm39) N3I probably damaging Het
P3h3 A T 6: 124,834,157 (GRCm39) probably null Het
Pi4k2a A G 19: 42,103,477 (GRCm39) D329G probably benign Het
Ptch1 T C 13: 63,713,268 (GRCm39) probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Slc18a3 T A 14: 32,185,880 (GRCm39) M168L probably benign Het
Smurf1 T C 5: 144,816,190 (GRCm39) T722A probably damaging Het
Ssr2 C T 3: 88,488,379 (GRCm39) P85L probably damaging Het
Syne2 G T 12: 76,074,898 (GRCm39) A4614S probably benign Het
Tgfbr3 C A 5: 107,288,521 (GRCm39) G380V possibly damaging Het
Tk1 G T 11: 117,706,748 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,241 (GRCm39) S610T probably benign Het
Tmtc2 A G 10: 105,107,302 (GRCm39) probably benign Het
Trim30b A G 7: 104,006,578 (GRCm39) Y93H possibly damaging Het
Tsks A G 7: 44,593,412 (GRCm39) D126G probably damaging Het
Ttn T A 2: 76,733,812 (GRCm39) probably benign Het
Usp15 A G 10: 123,017,647 (GRCm39) W50R probably damaging Het
Vmn2r55 A T 7: 12,404,492 (GRCm39) F304I probably benign Het
Xirp2 T A 2: 67,339,587 (GRCm39) D609E probably damaging Het
Zan C T 5: 137,392,638 (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
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'- CCCGTGAAGGATGAACTGTG -3'
(R):5'- TGATAACTGTGGCCTCCAGG -3'

Sequencing Primer
(F):5'- ATTTCACAGAGGACTGAGCTC -3'
(R):5'- GTCTCGTCTTAGCAGACA -3'
Posted On 2017-10-20