Incidental Mutation 'R1565:Stkld1'
ID 175173
Institutional Source Beutler Lab
Gene Symbol Stkld1
Ensembl Gene ENSMUSG00000049897
Gene Name serine/threonine kinase-like domain containing 1
Synonyms LOC279029, Gm711
MMRRC Submission 039604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1565 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26824059-26843508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26840102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 391 (T391S)
Ref Sequence ENSEMBL: ENSMUSP00000062967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]
AlphaFold Q80YS9
Predicted Effect probably benign
Transcript: ENSMUST00000055406
AA Change: T391S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: T391S

DomainStartEndE-ValueType
Pfam:Pkinase 3 266 8e-35 PFAM
Pfam:Pkinase_Tyr 7 262 4.5e-27 PFAM
low complexity region 352 366 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064244
SMART Domains Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 390 2.55e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114020
SMART Domains Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
low complexity region 203 220 N/A INTRINSIC
EXOIII 252 413 2.55e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123126
Predicted Effect probably benign
Transcript: ENSMUST00000136710
SMART Domains Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 363 1.57e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145546
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,771,327 (GRCm39) G270S probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Adamts14 A T 10: 61,106,676 (GRCm39) M148K probably damaging Het
Adcy5 A G 16: 35,089,327 (GRCm39) E508G probably damaging Het
Ankfy1 T A 11: 72,648,144 (GRCm39) L875H probably damaging Het
Cacng3 A T 7: 122,367,624 (GRCm39) D168V probably damaging Het
Clpb G A 7: 101,434,668 (GRCm39) R488Q probably benign Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
Cpxm2 A T 7: 131,663,874 (GRCm39) Y350N probably damaging Het
D130040H23Rik T A 8: 69,755,812 (GRCm39) *406R probably null Het
Dnah10 T A 5: 124,906,678 (GRCm39) D4236E probably damaging Het
Dpf3 T A 12: 83,417,391 (GRCm39) Y27F probably damaging Het
Esp4 T C 17: 40,913,486 (GRCm39) *118Q probably null Het
Fam222b T C 11: 78,045,488 (GRCm39) S222P possibly damaging Het
Flnc T C 6: 29,455,170 (GRCm39) V1933A probably damaging Het
Gem T C 4: 11,713,709 (GRCm39) F282L possibly damaging Het
Gli2 T C 1: 118,769,660 (GRCm39) T631A possibly damaging Het
Gpld1 T A 13: 25,140,051 (GRCm39) V116E probably damaging Het
Gpr176 A G 2: 118,110,695 (GRCm39) M188T probably benign Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
Hpdl T C 4: 116,678,080 (GRCm39) N127S probably damaging Het
Hsd17b8 C T 17: 34,246,469 (GRCm39) V105I possibly damaging Het
Id4 G T 13: 48,415,770 (GRCm39) V151L possibly damaging Het
Kcnh8 G T 17: 53,263,909 (GRCm39) G802V probably benign Het
Lamc1 C A 1: 153,118,489 (GRCm39) S894I probably benign Het
Larp1b A G 3: 40,926,819 (GRCm39) N184S probably damaging Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Lmo7 A T 14: 102,124,957 (GRCm39) Q472L probably damaging Het
Mog G C 17: 37,328,474 (GRCm39) N152K possibly damaging Het
Mttp A G 3: 137,822,166 (GRCm39) probably null Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myo9b A G 8: 71,767,836 (GRCm39) N303S possibly damaging Het
Nek3 T C 8: 22,622,217 (GRCm39) probably null Het
Nlrc4 A T 17: 74,748,926 (GRCm39) D771E probably benign Het
Nup160 A T 2: 90,552,405 (GRCm39) N1127I possibly damaging Het
Oas1h A T 5: 121,000,663 (GRCm39) N91I probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or4c120 A T 2: 89,000,971 (GRCm39) V195D probably benign Het
Or4c121 G T 2: 89,024,227 (GRCm39) S50R probably damaging Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pi4ka G A 16: 17,099,764 (GRCm39) C96Y probably null Het
Pira2 A T 7: 3,847,548 (GRCm39) F47Y probably damaging Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 C T 10: 3,890,526 (GRCm39) T394I probably damaging Het
Pramel22 G A 4: 143,382,187 (GRCm39) Q170* probably null Het
Psmd1 T C 1: 86,019,719 (GRCm39) probably benign Het
Rab3ip A T 10: 116,775,128 (GRCm39) C77S probably benign Het
Reln A T 5: 22,130,211 (GRCm39) M2700K probably benign Het
Rfx1 A G 8: 84,800,575 (GRCm39) T59A probably benign Het
Ric8b G T 10: 84,815,963 (GRCm39) V405L probably benign Het
Rufy3 G T 5: 88,788,491 (GRCm39) A479S probably damaging Het
Sardh A T 2: 27,132,731 (GRCm39) Y166N probably damaging Het
Slamf6 T G 1: 171,761,975 (GRCm39) V132G possibly damaging Het
Slc12a3 T G 8: 95,072,505 (GRCm39) H674Q possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srsf9 A G 5: 115,465,429 (GRCm39) N21S possibly damaging Het
Sumf2 C A 5: 129,888,755 (GRCm39) N230K probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Thsd7b T A 1: 129,523,778 (GRCm39) S194T possibly damaging Het
Tnn T A 1: 159,924,835 (GRCm39) Y1173F probably damaging Het
Top2a A G 11: 98,891,880 (GRCm39) F1122L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim39 G A 17: 36,579,746 (GRCm39) R70W probably damaging Het
Ttn G A 2: 76,624,605 (GRCm39) T15289I probably damaging Het
Ugt2b38 A T 5: 87,559,773 (GRCm39) V373E probably damaging Het
Usp54 A G 14: 20,657,227 (GRCm39) S24P probably damaging Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Xylt2 C T 11: 94,558,420 (GRCm39) A579T probably benign Het
Zbtb21 A G 16: 97,753,627 (GRCm39) S247P probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp251 T A 15: 76,737,238 (GRCm39) R613S probably damaging Het
Zfp251 C T 15: 76,737,239 (GRCm39) R613K possibly damaging Het
Zfp91 T C 19: 12,756,439 (GRCm39) D135G probably benign Het
Other mutations in Stkld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Stkld1 APN 2 26,841,483 (GRCm39) missense probably benign 0.01
IGL02183:Stkld1 APN 2 26,836,671 (GRCm39) missense probably benign 0.04
IGL02393:Stkld1 APN 2 26,840,154 (GRCm39) missense probably benign 0.41
IGL03136:Stkld1 APN 2 26,841,435 (GRCm39) missense probably benign 0.00
IGL03261:Stkld1 APN 2 26,842,789 (GRCm39) missense probably benign 0.21
R0067:Stkld1 UTSW 2 26,839,352 (GRCm39) missense probably benign 0.01
R0067:Stkld1 UTSW 2 26,839,352 (GRCm39) missense probably benign 0.01
R0973:Stkld1 UTSW 2 26,841,462 (GRCm39) missense probably benign 0.00
R1065:Stkld1 UTSW 2 26,830,050 (GRCm39) missense probably damaging 0.97
R1467:Stkld1 UTSW 2 26,839,407 (GRCm39) missense probably benign 0.00
R1467:Stkld1 UTSW 2 26,839,407 (GRCm39) missense probably benign 0.00
R1844:Stkld1 UTSW 2 26,840,115 (GRCm39) missense probably damaging 1.00
R1871:Stkld1 UTSW 2 26,827,985 (GRCm39) unclassified probably benign
R1965:Stkld1 UTSW 2 26,836,744 (GRCm39) splice site probably null
R2001:Stkld1 UTSW 2 26,842,759 (GRCm39) missense probably damaging 1.00
R2308:Stkld1 UTSW 2 26,842,726 (GRCm39) missense probably damaging 0.98
R2566:Stkld1 UTSW 2 26,840,650 (GRCm39) missense probably damaging 1.00
R3929:Stkld1 UTSW 2 26,830,059 (GRCm39) critical splice donor site probably null
R4257:Stkld1 UTSW 2 26,833,146 (GRCm39) missense probably benign 0.02
R4493:Stkld1 UTSW 2 26,836,638 (GRCm39) missense probably benign 0.00
R4494:Stkld1 UTSW 2 26,836,638 (GRCm39) missense probably benign 0.00
R4589:Stkld1 UTSW 2 26,840,679 (GRCm39) missense probably damaging 1.00
R4775:Stkld1 UTSW 2 26,841,757 (GRCm39) missense probably damaging 0.99
R5601:Stkld1 UTSW 2 26,842,717 (GRCm39) missense probably damaging 1.00
R5707:Stkld1 UTSW 2 26,833,999 (GRCm39) missense probably damaging 1.00
R6259:Stkld1 UTSW 2 26,839,393 (GRCm39) missense possibly damaging 0.70
R6306:Stkld1 UTSW 2 26,833,899 (GRCm39) missense probably damaging 0.98
R6349:Stkld1 UTSW 2 26,835,872 (GRCm39) missense probably benign 0.00
R6418:Stkld1 UTSW 2 26,831,093 (GRCm39) missense possibly damaging 0.47
R6806:Stkld1 UTSW 2 26,833,922 (GRCm39) missense probably benign 0.01
R7079:Stkld1 UTSW 2 26,839,359 (GRCm39) missense probably benign 0.00
R7199:Stkld1 UTSW 2 26,842,726 (GRCm39) missense probably damaging 0.98
R7522:Stkld1 UTSW 2 26,837,259 (GRCm39) missense probably benign 0.13
R7556:Stkld1 UTSW 2 26,837,307 (GRCm39) missense possibly damaging 0.74
R7813:Stkld1 UTSW 2 26,835,888 (GRCm39) nonsense probably null
R8165:Stkld1 UTSW 2 26,836,668 (GRCm39) missense probably benign 0.01
R8330:Stkld1 UTSW 2 26,841,515 (GRCm39) missense probably benign 0.00
R8709:Stkld1 UTSW 2 26,835,817 (GRCm39) missense probably benign 0.03
R8935:Stkld1 UTSW 2 26,833,941 (GRCm39) nonsense probably null
R9137:Stkld1 UTSW 2 26,840,572 (GRCm39) missense probably benign 0.00
R9599:Stkld1 UTSW 2 26,843,297 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TTATTCCCAGTGAGGGAGGACACC -3'
(R):5'- AGTGCCTAGCCTTGACTTGACCAG -3'

Sequencing Primer
(F):5'- GGAGGACACCTTTCCATCTTAGAG -3'
(R):5'- TGTCCCGAGTTTCCAAGCAG -3'
Posted On 2014-04-24