Incidental Mutation 'R4820:Ulk1'
ID 370119
Institutional Source Beutler Lab
Gene Symbol Ulk1
Ensembl Gene ENSMUSG00000029512
Gene Name unc-51 like kinase 1
Synonyms Unc51.1
MMRRC Submission 042436-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4820 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110932354-110957963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110939996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 407 (T407A)
Ref Sequence ENSEMBL: ENSMUSP00000143536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031490] [ENSMUST00000196094] [ENSMUST00000200299] [ENSMUST00000198561]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031490
AA Change: T407A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: T407A

DomainStartEndE-ValueType
S_TKc 16 278 3.6e-98 SMART
low complexity region 287 318 N/A INTRINSIC
low complexity region 340 356 N/A INTRINSIC
low complexity region 400 423 N/A INTRINSIC
Blast:S_TKc 459 837 1e-131 BLAST
Pfam:DUF3543 838 1048 1.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198470
Predicted Effect probably benign
Transcript: ENSMUST00000200299
AA Change: T407A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: T407A

DomainStartEndE-ValueType
S_TKc 16 278 7.47e-96 SMART
low complexity region 287 318 N/A INTRINSIC
low complexity region 340 356 N/A INTRINSIC
low complexity region 400 423 N/A INTRINSIC
Blast:S_TKc 459 843 1e-129 BLAST
Pfam:DUF3543 844 1054 1.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200099
Predicted Effect probably benign
Transcript: ENSMUST00000198561
SMART Domains Protein: ENSMUSP00000143308
Gene: ENSMUSG00000029512

DomainStartEndE-ValueType
Blast:S_TKc 1 75 5e-24 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 96% (104/108)
MGI Phenotype PHENOTYPE: Null homozygotes have blood defects including an increase in mean corpuscular volume and the presence of red blood cells that contain mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,481 (GRCm39) noncoding transcript Het
5730455P16Rik A T 11: 80,266,346 (GRCm39) S132T possibly damaging Het
Aadacl3 T A 4: 144,184,527 (GRCm39) H77L probably damaging Het
Actr5 T A 2: 158,467,426 (GRCm39) V122D probably damaging Het
Adamts7 A G 9: 90,071,739 (GRCm39) D678G possibly damaging Het
Alpk1 T A 3: 127,464,708 (GRCm39) D1190V probably benign Het
Apbb1ip A T 2: 22,765,265 (GRCm39) N649Y unknown Het
Atp6v0a1 A G 11: 100,933,776 (GRCm39) I522V probably benign Het
Brd10 T C 19: 29,695,809 (GRCm39) N1228S possibly damaging Het
Cars1 T C 7: 143,124,301 (GRCm39) D375G probably damaging Het
Catspere1 A T 1: 177,687,441 (GRCm39) noncoding transcript Het
Ccdc87 A G 19: 4,890,579 (GRCm39) D357G probably damaging Het
Cd101 A T 3: 100,929,471 (GRCm39) S8T probably benign Het
Cfap65 C T 1: 74,966,791 (GRCm39) A299T probably benign Het
Cic T C 7: 24,971,157 (GRCm39) V296A possibly damaging Het
Col7a1 T A 9: 108,797,675 (GRCm39) S1686T possibly damaging Het
Ctbp2 A C 7: 132,615,423 (GRCm39) L504R probably damaging Het
Cttnbp2nl T C 3: 104,918,640 (GRCm39) K67E probably benign Het
Cyp2c50 C T 19: 40,102,024 (GRCm39) P480S probably damaging Het
Dcdc5 A C 2: 106,166,420 (GRCm39) noncoding transcript Het
Defb2 G T 8: 22,333,317 (GRCm39) E31* probably null Het
Dhrs1 T A 14: 55,977,083 (GRCm39) N244I possibly damaging Het
Dop1b A G 16: 93,589,978 (GRCm39) I134V probably benign Het
Eif1ad11 A T 12: 87,994,158 (GRCm39) I129F unknown Het
Etl4 A G 2: 20,811,496 (GRCm39) D1193G possibly damaging Het
Ezh1 A C 11: 101,094,594 (GRCm39) S399R probably damaging Het
Fam161a T C 11: 22,970,076 (GRCm39) S26P probably damaging Het
Fcgbp C A 7: 27,813,383 (GRCm39) S2306Y probably damaging Het
Fras1 T C 5: 96,876,512 (GRCm39) I2415T probably benign Het
Gas2l3 A G 10: 89,252,907 (GRCm39) L246P probably damaging Het
Gdf15 C T 8: 71,082,246 (GRCm39) V287M probably damaging Het
Gm7742 T C 17: 21,420,235 (GRCm39) noncoding transcript Het
Grin2d T C 7: 45,507,363 (GRCm39) D446G probably damaging Het
Hemk1 A G 9: 107,205,385 (GRCm39) F107L probably benign Het
Hmgcr C T 13: 96,796,700 (GRCm39) G197S probably damaging Het
Ift52 G A 2: 162,873,108 (GRCm39) G207D probably benign Het
Il17re A G 6: 113,442,816 (GRCm39) T275A probably benign Het
Iqcf3 T C 9: 106,430,788 (GRCm39) probably benign Het
Kcna1 A G 6: 126,619,099 (GRCm39) I407T probably damaging Het
Kcnrg T A 14: 61,845,386 (GRCm39) M142K probably benign Het
Lhx9 C A 1: 138,766,105 (GRCm39) V237L probably benign Het
Lipo3 A C 19: 33,560,497 (GRCm39) I56S probably damaging Het
Loxhd1 C G 18: 77,472,663 (GRCm39) P1060R probably damaging Het
Map2k4 A C 11: 65,587,201 (GRCm39) probably benign Het
Methig1 A G 15: 100,251,416 (GRCm39) K109R possibly damaging Het
Mmrn1 G A 6: 60,950,027 (GRCm39) V326I probably benign Het
Myo15a G A 11: 60,367,741 (GRCm39) R167H probably damaging Het
Ncoa7 G A 10: 30,524,472 (GRCm39) T142M probably damaging Het
Nfkb2 C A 19: 46,296,493 (GRCm39) Q254K probably damaging Het
Nherf1 A G 11: 115,070,918 (GRCm39) E290G probably benign Het
Nol6 G T 4: 41,121,508 (GRCm39) P278Q probably damaging Het
Nptxr T A 15: 79,677,027 (GRCm39) D285V probably damaging Het
Oosp3 T C 19: 11,688,997 (GRCm39) W82R probably damaging Het
Or6b3 A T 1: 92,438,812 (GRCm39) *313K probably null Het
Or6n1 A G 1: 173,916,742 (GRCm39) I45M possibly damaging Het
Pa2g4 G T 10: 128,395,199 (GRCm39) T322K probably damaging Het
Parp16 C A 9: 65,145,175 (GRCm39) F291L probably damaging Het
Pdzd9 A T 7: 120,267,619 (GRCm39) D65E probably damaging Het
Pgap3 A G 11: 98,281,300 (GRCm39) W238R probably damaging Het
Pgf G A 12: 85,218,538 (GRCm39) H67Y probably benign Het
Pik3cb T C 9: 98,955,679 (GRCm39) T413A probably benign Het
Plcxd2 A T 16: 45,800,700 (GRCm39) C175S probably benign Het
Pou2f1 A T 1: 165,719,517 (GRCm39) probably benign Het
Ppfia1 T G 7: 144,052,106 (GRCm39) N846T probably benign Het
Ppid T A 3: 79,502,504 (GRCm39) probably null Het
Prkcq G A 2: 11,231,797 (GRCm39) probably null Het
Ptgds T C 2: 25,359,058 (GRCm39) K66E probably benign Het
Ptpmt1 A G 2: 90,748,283 (GRCm39) noncoding transcript Het
Rab3il1 G A 19: 10,004,034 (GRCm39) G51D probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rpl7l1 T C 17: 47,089,014 (GRCm39) N239S probably benign Het
Rrbp1 C A 2: 143,806,685 (GRCm39) A978S possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGCCGGCGGCG 7: 97,229,126 (GRCm39) probably benign Het
Scn3a A T 2: 65,291,622 (GRCm39) I1708N probably damaging Het
Serinc1 A G 10: 57,401,466 (GRCm39) I109T possibly damaging Het
Shroom1 G A 11: 53,355,966 (GRCm39) V339I probably benign Het
Slc30a8 T A 15: 52,169,880 (GRCm39) C36S probably benign Het
Slco1b2 A G 6: 141,631,158 (GRCm39) I597M probably benign Het
Snx27 A G 3: 94,427,518 (GRCm39) F228S probably damaging Het
Spata31f1a T A 4: 42,851,815 (GRCm39) I114F probably damaging Het
Speer4e2 G T 5: 15,026,225 (GRCm39) T144K probably benign Het
Stim1 T A 7: 102,064,571 (GRCm39) F214I probably damaging Het
Svep1 T C 4: 58,082,664 (GRCm39) T1987A probably benign Het
Tamm41 A G 6: 115,002,378 (GRCm39) I18T possibly damaging Het
Tmem150b T A 7: 4,726,871 (GRCm39) D79V probably damaging Het
Tmem167 T A 13: 90,252,548 (GRCm39) I68N probably benign Het
Traf3 A G 12: 111,227,204 (GRCm39) E339G possibly damaging Het
Tspan12 G A 6: 21,795,660 (GRCm39) P177S probably damaging Het
Ttn A G 2: 76,783,562 (GRCm39) I810T probably benign Het
Uroc1 G A 6: 90,334,600 (GRCm39) probably null Het
Vmn2r-ps69 T C 7: 84,959,584 (GRCm39) noncoding transcript Het
Wdr59 T C 8: 112,207,446 (GRCm39) N476S probably benign Het
Zfp472 A G 17: 33,196,416 (GRCm39) M164V probably benign Het
Zfp608 T C 18: 55,120,756 (GRCm39) N277S probably benign Het
Zfp831 T C 2: 174,547,097 (GRCm39) C1427R possibly damaging Het
Other mutations in Ulk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ulk1 APN 5 110,935,738 (GRCm39) missense probably damaging 1.00
IGL00916:Ulk1 APN 5 110,940,877 (GRCm39) missense probably damaging 1.00
IGL00951:Ulk1 APN 5 110,940,270 (GRCm39) missense possibly damaging 0.85
IGL02404:Ulk1 APN 5 110,944,100 (GRCm39) splice site probably null
IGL02415:Ulk1 APN 5 110,935,487 (GRCm39) missense probably damaging 1.00
IGL02500:Ulk1 APN 5 110,957,000 (GRCm39) missense probably damaging 1.00
IGL02696:Ulk1 APN 5 110,940,918 (GRCm39) missense probably damaging 1.00
R0086:Ulk1 UTSW 5 110,935,573 (GRCm39) splice site probably benign
R0092:Ulk1 UTSW 5 110,944,193 (GRCm39) missense probably null 1.00
R0158:Ulk1 UTSW 5 110,936,810 (GRCm39) splice site probably benign
R0387:Ulk1 UTSW 5 110,936,663 (GRCm39) missense possibly damaging 0.91
R0453:Ulk1 UTSW 5 110,938,951 (GRCm39) missense probably damaging 1.00
R0837:Ulk1 UTSW 5 110,937,411 (GRCm39) splice site probably benign
R1244:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R1245:Ulk1 UTSW 5 110,937,206 (GRCm39) critical splice donor site probably null
R1268:Ulk1 UTSW 5 110,938,143 (GRCm39) missense probably damaging 1.00
R1342:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R1586:Ulk1 UTSW 5 110,937,382 (GRCm39) missense probably damaging 1.00
R1590:Ulk1 UTSW 5 110,943,632 (GRCm39) missense probably damaging 1.00
R1816:Ulk1 UTSW 5 110,935,697 (GRCm39) missense probably damaging 1.00
R1837:Ulk1 UTSW 5 110,937,247 (GRCm39) missense probably damaging 1.00
R1924:Ulk1 UTSW 5 110,938,936 (GRCm39) missense probably damaging 0.97
R1992:Ulk1 UTSW 5 110,935,017 (GRCm39) missense probably damaging 1.00
R2126:Ulk1 UTSW 5 110,940,302 (GRCm39) missense probably benign 0.27
R2276:Ulk1 UTSW 5 110,936,028 (GRCm39) missense probably benign 0.00
R2310:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2311:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2312:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2760:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2762:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2763:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2764:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2859:Ulk1 UTSW 5 110,942,495 (GRCm39) missense probably damaging 1.00
R2932:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3760:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3761:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3762:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3763:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4334:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4419:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4471:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4615:Ulk1 UTSW 5 110,936,912 (GRCm39) missense probably damaging 1.00
R4776:Ulk1 UTSW 5 110,936,813 (GRCm39) critical splice donor site probably null
R4912:Ulk1 UTSW 5 110,935,455 (GRCm39) missense probably damaging 1.00
R6299:Ulk1 UTSW 5 110,938,963 (GRCm39) missense possibly damaging 0.78
R6754:Ulk1 UTSW 5 110,938,259 (GRCm39) missense possibly damaging 0.91
R7233:Ulk1 UTSW 5 110,956,908 (GRCm39) missense probably damaging 1.00
R7724:Ulk1 UTSW 5 110,940,270 (GRCm39) missense probably benign 0.44
R7751:Ulk1 UTSW 5 110,957,078 (GRCm39) missense probably damaging 1.00
R7823:Ulk1 UTSW 5 110,946,780 (GRCm39) missense probably damaging 1.00
R8379:Ulk1 UTSW 5 110,935,531 (GRCm39) missense probably damaging 1.00
R8489:Ulk1 UTSW 5 110,947,002 (GRCm39) nonsense probably null
R8880:Ulk1 UTSW 5 110,934,288 (GRCm39) missense probably damaging 1.00
R9214:Ulk1 UTSW 5 110,936,663 (GRCm39) missense possibly damaging 0.82
X0025:Ulk1 UTSW 5 110,939,995 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGTCCTGAAAGCACCTTTG -3'
(R):5'- TGGGAATAAGGCCATTTGGG -3'

Sequencing Primer
(F):5'- GGTCCTGAAAGCACCTTTGATCAAC -3'
(R):5'- CCATTTGGGAAGGACTAAGGCTG -3'
Posted On 2016-02-04