Incidental Mutation 'R1023:Ubap2l'
ID 94594
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 039125-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1023 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 89955180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029552] [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000068798] [ENSMUST00000090908] [ENSMUST00000159064] [ENSMUST00000197903] [ENSMUST00000196917] [ENSMUST00000195995] [ENSMUST00000196843] [ENSMUST00000161918] [ENSMUST00000196633] [ENSMUST00000162114] [ENSMUST00000160640] [ENSMUST00000199834] [ENSMUST00000198322] [ENSMUST00000199929]
AlphaFold Q80X50
Predicted Effect probably benign
Transcript: ENSMUST00000029552
SMART Domains Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029553
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520

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 probably benign
Transcript: ENSMUST00000064639
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520

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 probably benign
Transcript: ENSMUST00000068798
SMART Domains Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 171 2.6e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090908
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520

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 probably benign
Transcript: ENSMUST00000159064
SMART Domains Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 6 188 4.2e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159202
SMART Domains Protein: ENSMUSP00000123777
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 61 2.3e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198282
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: ENSMUST00000196917
SMART Domains Protein: ENSMUSP00000142602
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 50 2e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000195995
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520

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 probably benign
Transcript: ENSMUST00000196843
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520

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 probably benign
Transcript: ENSMUST00000161918
SMART Domains Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 64 2.2e-34 PFAM
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 probably benign
Transcript: ENSMUST00000162114
SMART Domains Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.4e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160640
SMART Domains Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 3.2e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199834
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520

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 probably benign
Transcript: ENSMUST00000198322
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520

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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,772,632 (GRCm39) A607V probably damaging Het
4930523C07Rik A G 1: 159,905,057 (GRCm39) probably benign Het
Ap3d1 A T 10: 80,550,092 (GRCm39) L713Q probably damaging Het
Baz2a A G 10: 127,957,676 (GRCm39) T1010A possibly damaging Het
Cdh15 T C 8: 123,591,939 (GRCm39) I608T probably damaging Het
Cdkl2 A T 5: 92,187,145 (GRCm39) D40E possibly damaging Het
Col9a2 G A 4: 120,901,207 (GRCm39) G118R unknown Het
Cryge C A 1: 65,089,945 (GRCm39) C79F probably damaging Het
Dapk1 T C 13: 60,878,799 (GRCm39) L596P probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Dync2i1 T C 12: 116,196,277 (GRCm39) E490G probably damaging Het
Enam A G 5: 88,649,826 (GRCm39) Q445R probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnpat A T 8: 125,597,519 (GRCm39) D27V probably benign Het
Htr5a A T 5: 28,047,996 (GRCm39) T184S possibly damaging Het
Lap3 C T 5: 45,652,553 (GRCm39) P50S probably benign Het
Mamdc2 A T 19: 23,288,271 (GRCm39) M589K probably damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mef2b C T 8: 70,618,247 (GRCm39) P109L possibly damaging Het
Meltf T A 16: 31,703,778 (GRCm39) F168L probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nup205 T A 6: 35,211,641 (GRCm39) F1661I probably damaging Het
Or11h4b A T 14: 50,918,473 (GRCm39) L206H probably damaging Het
Or5h19 A T 16: 58,856,178 (GRCm39) N307K probably benign Het
Plac8 A T 5: 100,704,447 (GRCm39) D83E probably benign Het
Pnpt1 T C 11: 29,091,328 (GRCm39) probably benign Het
Pold2 G T 11: 5,825,140 (GRCm39) Q86K probably benign Het
Ptprt A G 2: 161,400,863 (GRCm39) L1057P probably damaging Het
Rev3l A G 10: 39,708,635 (GRCm39) H2284R probably damaging Het
Scart1 T A 7: 139,804,376 (GRCm39) C484S possibly damaging Het
Skint6 A C 4: 113,095,300 (GRCm39) S120A probably benign Het
Slc1a7 G A 4: 107,864,770 (GRCm39) V270M probably damaging Het
Spata2 A G 2: 167,327,142 (GRCm39) M85T probably benign Het
Taf1b G T 12: 24,559,558 (GRCm39) probably benign Het
Tert A G 13: 73,790,178 (GRCm39) N844S probably benign Het
Thrap3 G A 4: 126,073,882 (GRCm39) S288L possibly damaging Het
Ubtf T C 11: 102,202,276 (GRCm39) E197G possibly damaging Het
Usp20 G T 2: 30,897,825 (GRCm39) G216W probably damaging Het
Yy1 T A 12: 108,759,457 (GRCm39) V40E unknown Het
Zfp335 G A 2: 164,734,505 (GRCm39) H1254Y possibly damaging 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
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
R2081:Ubap2l UTSW 3 89,946,271 (GRCm39) missense possibly damaging 0.92
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'- TGATGCTACACTGCATGGAAACCAC -3'
(R):5'- AGTATGTTTGAGGCCAGCTCACAC -3'

Sequencing Primer
(F):5'- CCACTATCAGGTGGTATAGTTACTC -3'
(R):5'- agtttgatccccagcacc -3'
Posted On 2014-01-05