Incidental Mutation 'R2081:Ubap2l'
ID 229462
Institutional Source Beutler Lab
Gene Symbol Ubap2l
Ensembl Gene ENSMUSG00000042520
Gene Name ubiquitin-associated protein 2-like
Synonyms 4932431F02Rik, A430103N23Rik, NICE-4, 3110083O19Rik
MMRRC Submission 040086-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2081 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89946271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 111 (G111D)
Ref Sequence ENSEMBL: ENSMUSP00000088424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000090908] [ENSMUST00000195995] [ENSMUST00000196633] [ENSMUST00000199834] [ENSMUST00000196843] [ENSMUST00000198322] [ENSMUST00000197903] [ENSMUST00000199929]
AlphaFold Q80X50
Predicted Effect possibly damaging
Transcript: ENSMUST00000029553
AA Change: G111D

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 389 398 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 459 484 N/A INTRINSIC
Pfam:DUF3697 514 546 4e-22 PFAM
low complexity region 554 589 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 714 745 N/A INTRINSIC
low complexity region 748 804 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 893 916 N/A INTRINSIC
low complexity region 1038 1051 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000064639
AA Change: G111D

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 394 403 N/A INTRINSIC
low complexity region 405 414 N/A INTRINSIC
low complexity region 464 489 N/A INTRINSIC
Pfam:DUF3697 520 551 4.1e-18 PFAM
low complexity region 559 594 N/A INTRINSIC
low complexity region 670 680 N/A INTRINSIC
low complexity region 719 750 N/A INTRINSIC
low complexity region 753 809 N/A INTRINSIC
low complexity region 813 827 N/A INTRINSIC
low complexity region 898 921 N/A INTRINSIC
low complexity region 1043 1056 N/A INTRINSIC
low complexity region 1077 1092 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090908
AA Change: G111D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 148 N/A INTRINSIC
low complexity region 173 201 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 411 420 N/A INTRINSIC
low complexity region 470 495 N/A INTRINSIC
Pfam:DUF3697 525 557 3.6e-22 PFAM
low complexity region 565 600 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 725 756 N/A INTRINSIC
low complexity region 759 815 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195995
AA Change: G111D

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 148 N/A INTRINSIC
low complexity region 173 201 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 411 420 N/A INTRINSIC
low complexity region 470 495 N/A INTRINSIC
Pfam:DUF3697 526 557 3.7e-18 PFAM
low complexity region 565 600 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 725 756 N/A INTRINSIC
low complexity region 759 815 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196568
Predicted Effect probably benign
Transcript: ENSMUST00000196633
SMART Domains Protein: ENSMUSP00000143423
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 6.3e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199834
AA Change: G111D

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 148 N/A INTRINSIC
low complexity region 173 201 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 411 420 N/A INTRINSIC
low complexity region 470 495 N/A INTRINSIC
Pfam:DUF3697 525 557 3.6e-22 PFAM
low complexity region 565 600 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 725 756 N/A INTRINSIC
low complexity region 759 815 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000196843
AA Change: G111D

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 389 398 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 459 484 N/A INTRINSIC
Pfam:DUF3697 514 546 4e-22 PFAM
low complexity region 554 589 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 714 745 N/A INTRINSIC
low complexity region 748 804 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 893 916 N/A INTRINSIC
low complexity region 1038 1051 N/A INTRINSIC
low complexity region 1072 1087 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198322
AA Change: G111D

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: G111D

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 369 378 N/A INTRINSIC
low complexity region 380 389 N/A INTRINSIC
low complexity region 439 464 N/A INTRINSIC
Pfam:DUF3697 494 526 4.1e-22 PFAM
low complexity region 534 569 N/A INTRINSIC
low complexity region 645 655 N/A INTRINSIC
low complexity region 694 725 N/A INTRINSIC
low complexity region 728 784 N/A INTRINSIC
low complexity region 788 802 N/A INTRINSIC
low complexity region 873 896 N/A INTRINSIC
low complexity region 1017 1030 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199016
Predicted Effect probably benign
Transcript: ENSMUST00000197903
SMART Domains Protein: ENSMUSP00000143519
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 81 7e-32 PDB
Blast:UBA 50 81 7e-16 BLAST
SCOP:d1efub3 51 81 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199929
SMART Domains Protein: ENSMUSP00000142488
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 57 2e-12 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased female body size and reduced female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,211,085 (GRCm39) T28A possibly damaging Het
Actl11 G A 9: 107,807,396 (GRCm39) G573D probably benign Het
Adam39 T A 8: 41,279,879 (GRCm39) *757K probably null Het
Agpat4 T C 17: 12,370,771 (GRCm39) I38T possibly damaging Het
Ap3d1 A C 10: 80,568,770 (GRCm39) I36S probably damaging Het
Arhgap45 T C 10: 79,863,508 (GRCm39) F784L probably damaging Het
Atg5lrt T C 10: 95,972,601 (GRCm39) I46T possibly damaging Het
Atp10b T A 11: 43,092,955 (GRCm39) I430N probably damaging Het
Atrip T A 9: 108,901,807 (GRCm39) probably null Het
C2cd4b G T 9: 67,667,859 (GRCm39) R285L probably damaging Het
Camta1 T C 4: 151,228,699 (GRCm39) E711G probably benign Het
Clcn6 T C 4: 148,095,525 (GRCm39) Y685C probably damaging Het
Col18a1 T A 10: 76,890,019 (GRCm39) D1447V probably damaging Het
Crispld1 T A 1: 17,832,403 (GRCm39) V463D probably damaging Het
Crybg2 T G 4: 133,816,131 (GRCm39) F1612V possibly damaging Het
Dclk1 T C 3: 55,429,346 (GRCm39) probably null Het
Ddx46 G T 13: 55,821,829 (GRCm39) V834L probably benign Het
Dnah10 A G 5: 124,852,045 (GRCm39) D1734G possibly damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Ect2l T C 10: 18,041,275 (GRCm39) E301G probably damaging Het
Elf3 C T 1: 135,184,814 (GRCm39) C124Y probably benign Het
Eno2 A G 6: 124,740,088 (GRCm39) V316A probably damaging Het
Erap1 A G 13: 74,823,426 (GRCm39) E820G possibly damaging Het
Evpl A T 11: 116,125,092 (GRCm39) H123Q probably damaging Het
Fat2 T A 11: 55,200,503 (GRCm39) Y857F possibly damaging Het
Fbrsl1 T A 5: 110,519,491 (GRCm39) probably null Het
Fbxw7 A G 3: 84,881,820 (GRCm39) D432G probably damaging Het
Flt1 A T 5: 147,576,232 (GRCm39) L592Q probably damaging Het
Gm14496 T A 2: 181,642,272 (GRCm39) C648S probably damaging Het
Gm5150 A T 3: 16,045,109 (GRCm39) S39T probably benign Het
Gse1 C A 8: 121,293,219 (GRCm39) P177Q probably damaging Het
Heatr4 G A 12: 84,027,096 (GRCm39) R54W probably damaging Het
Hpgd C A 8: 56,760,677 (GRCm39) Q125K probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Mast2 A T 4: 116,187,671 (GRCm39) probably null Het
Mfsd11 A G 11: 116,752,381 (GRCm39) T177A possibly damaging Het
Mlx T C 11: 100,978,257 (GRCm39) S36P probably benign Het
Mlxipl T A 5: 135,142,492 (GRCm39) V102D probably damaging Het
Mms22l T C 4: 24,536,150 (GRCm39) Y540H probably damaging Het
Msc T C 1: 14,825,941 (GRCm39) D11G probably benign Het
Muc4 C G 16: 32,574,020 (GRCm39) S699R probably benign Het
Nckap1l T C 15: 103,405,881 (GRCm39) S1106P probably damaging Het
Obscn T C 11: 58,925,008 (GRCm39) E5703G possibly damaging Het
Or2ag1 A G 7: 106,313,405 (GRCm39) M161T probably benign Het
Pabpn1 A G 14: 55,133,115 (GRCm39) K38E probably damaging Het
Padi3 A T 4: 140,526,290 (GRCm39) L141Q probably damaging Het
Pakap G A 4: 57,855,927 (GRCm39) E419K possibly damaging Het
Pde3b A G 7: 114,122,657 (GRCm39) N742D probably benign Het
Pex1 T A 5: 3,674,132 (GRCm39) probably null Het
Pkd2 T C 5: 104,608,077 (GRCm39) V192A probably benign Het
Ppp6r2 T A 15: 89,166,332 (GRCm39) M750K probably benign Het
Prdm15 A T 16: 97,604,980 (GRCm39) Y783* probably null Het
Prox2 T A 12: 85,141,782 (GRCm39) Q140H probably damaging Het
Psg27 A T 7: 18,290,883 (GRCm39) I440K probably damaging Het
Pzp A G 6: 128,496,383 (GRCm39) M283T probably benign Het
Sec23a G A 12: 59,045,067 (GRCm39) Q192* probably null Het
Sh2b1 A G 7: 126,071,862 (GRCm39) S108P possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tkfc G A 19: 10,574,742 (GRCm39) A166V probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Trim47 A G 11: 115,997,239 (GRCm39) F505S probably damaging Het
Tti2 T C 8: 31,641,337 (GRCm39) F154L possibly damaging Het
Usp9y A T Y: 1,381,277 (GRCm39) I848N possibly damaging Het
Veph1 T C 3: 65,968,523 (GRCm39) Y740C probably damaging Het
Vmn2r114 T A 17: 23,510,083 (GRCm39) H799L possibly damaging Het
Wdr31 T A 4: 62,374,180 (GRCm39) M270L probably benign Het
Zfp26 A G 9: 20,347,913 (GRCm39) S884P probably benign Het
Zswim6 T A 13: 107,909,930 (GRCm39) noncoding transcript Het
Other mutations in Ubap2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Ubap2l APN 3 89,916,563 (GRCm39) nonsense probably null
IGL02606:Ubap2l APN 3 89,945,735 (GRCm39) missense probably damaging 0.98
IGL02809:Ubap2l APN 3 89,928,553 (GRCm39) missense probably damaging 1.00
Panhandle UTSW 3 89,938,683 (GRCm39) splice site probably benign
plainview UTSW 3 89,946,157 (GRCm39) missense probably damaging 1.00
R0052:Ubap2l UTSW 3 89,946,235 (GRCm39) missense possibly damaging 0.93
R0052:Ubap2l UTSW 3 89,946,235 (GRCm39) missense possibly damaging 0.93
R0128:Ubap2l UTSW 3 89,928,680 (GRCm39) missense possibly damaging 0.89
R0130:Ubap2l UTSW 3 89,928,680 (GRCm39) missense possibly damaging 0.89
R0502:Ubap2l UTSW 3 89,916,520 (GRCm39) missense probably damaging 1.00
R0619:Ubap2l UTSW 3 89,924,527 (GRCm39) missense probably benign 0.01
R0726:Ubap2l UTSW 3 89,928,553 (GRCm39) missense probably damaging 1.00
R1023:Ubap2l UTSW 3 89,955,180 (GRCm39) utr 5 prime probably benign
R1172:Ubap2l UTSW 3 89,930,807 (GRCm39) missense probably benign 0.24
R1174:Ubap2l UTSW 3 89,930,807 (GRCm39) missense probably benign 0.24
R1175:Ubap2l UTSW 3 89,930,807 (GRCm39) missense probably benign 0.24
R1191:Ubap2l UTSW 3 89,930,882 (GRCm39) missense probably damaging 1.00
R1432:Ubap2l UTSW 3 89,926,635 (GRCm39) missense probably benign 0.11
R1582:Ubap2l UTSW 3 89,941,978 (GRCm39) missense probably damaging 1.00
R1771:Ubap2l UTSW 3 89,926,538 (GRCm39) missense probably damaging 1.00
R2058:Ubap2l UTSW 3 89,938,683 (GRCm39) splice site probably benign
R2059:Ubap2l UTSW 3 89,938,683 (GRCm39) splice site probably benign
R2408:Ubap2l UTSW 3 89,916,439 (GRCm39) missense probably null 0.99
R3404:Ubap2l UTSW 3 89,946,157 (GRCm39) missense probably damaging 1.00
R3551:Ubap2l UTSW 3 89,922,758 (GRCm39) missense unknown
R4132:Ubap2l UTSW 3 89,916,491 (GRCm39) missense probably damaging 1.00
R4782:Ubap2l UTSW 3 89,928,210 (GRCm39) missense probably damaging 0.98
R4798:Ubap2l UTSW 3 89,928,210 (GRCm39) missense probably damaging 0.98
R5173:Ubap2l UTSW 3 89,928,337 (GRCm39) missense possibly damaging 0.86
R5274:Ubap2l UTSW 3 89,920,037 (GRCm39) missense probably damaging 1.00
R5387:Ubap2l UTSW 3 89,913,903 (GRCm39) missense probably benign 0.10
R6548:Ubap2l UTSW 3 89,930,867 (GRCm39) missense probably damaging 1.00
R6912:Ubap2l UTSW 3 89,946,155 (GRCm39) missense possibly damaging 0.84
R6995:Ubap2l UTSW 3 89,916,548 (GRCm39) missense probably damaging 0.98
R7039:Ubap2l UTSW 3 89,909,662 (GRCm39) missense probably damaging 1.00
R7323:Ubap2l UTSW 3 89,922,713 (GRCm39) missense unknown
R7512:Ubap2l UTSW 3 89,917,803 (GRCm39) missense unknown
R7815:Ubap2l UTSW 3 89,951,071 (GRCm39) nonsense probably null
R7975:Ubap2l UTSW 3 89,946,076 (GRCm39) splice site probably null
R8200:Ubap2l UTSW 3 89,930,933 (GRCm39) missense probably benign 0.34
R8291:Ubap2l UTSW 3 89,915,538 (GRCm39) makesense probably null
R8424:Ubap2l UTSW 3 89,928,338 (GRCm39) missense probably damaging 1.00
R8441:Ubap2l UTSW 3 89,920,007 (GRCm39) missense unknown
R9098:Ubap2l UTSW 3 89,909,756 (GRCm39) missense unknown
R9373:Ubap2l UTSW 3 89,915,587 (GRCm39) missense unknown
R9421:Ubap2l UTSW 3 89,955,108 (GRCm39) missense possibly damaging 0.95
R9488:Ubap2l UTSW 3 89,928,656 (GRCm39) missense probably benign 0.02
Z1176:Ubap2l UTSW 3 89,926,511 (GRCm39) missense probably damaging 1.00
Z1176:Ubap2l UTSW 3 89,909,124 (GRCm39) critical splice donor site probably null
Z1186:Ubap2l UTSW 3 89,916,543 (GRCm39) missense unknown
Z1191:Ubap2l UTSW 3 89,916,543 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACATGCCTGAAGTCCAGAC -3'
(R):5'- TGGCATCACTAAGTGTAAGAGTTGAG -3'

Sequencing Primer
(F):5'- TGCCTGAAGTCCAGACATTAC -3'
(R):5'- GCTGTGCTAGAAGTCACTCTAGAC -3'
Posted On 2014-09-17