Incidental Mutation 'R7815:Ubap2l'
ID 601448
Institutional Source Beutler Lab
Gene Symbol Ubap2l
Ensembl Gene ENSMUSG00000042520
Gene Name ubiquitin-associated protein 2-like
Synonyms 4932431F02Rik, A430103N23Rik, NICE-4, 3110083O19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 89951071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 72 (L72*)
Ref Sequence ENSEMBL: ENSMUSP00000143254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000090908] [ENSMUST00000195995] [ENSMUST00000196633] [ENSMUST00000196843] [ENSMUST00000196917] [ENSMUST00000197903] [ENSMUST00000198322] [ENSMUST00000199834] [ENSMUST00000199929]
AlphaFold Q80X50
Predicted Effect probably null
Transcript: ENSMUST00000029553
AA Change: L72*
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: L72*

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 null
Transcript: ENSMUST00000064639
AA Change: L72*
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: L72*

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 null
Transcript: ENSMUST00000090908
AA Change: L72*
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: L72*

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 null
Transcript: ENSMUST00000195995
AA Change: L72*
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: L72*

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 null
Transcript: ENSMUST00000196633
AA Change: L72*
SMART Domains Protein: ENSMUSP00000143423
Gene: ENSMUSG00000042520
AA Change: L72*

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 6.3e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000196843
AA Change: L72*
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: L72*

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: 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 null
Transcript: ENSMUST00000197903
AA Change: L72*
SMART Domains Protein: ENSMUSP00000143519
Gene: ENSMUSG00000042520
AA Change: L72*

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 null
Transcript: ENSMUST00000198322
AA Change: L72*
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: L72*

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 null
Transcript: ENSMUST00000199834
AA Change: L72*
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: L72*

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: 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,818,866 (GRCm39) D1285G probably benign Het
Abcc9 A G 6: 142,598,331 (GRCm39) V669A probably damaging Het
Ajap1 C A 4: 153,517,288 (GRCm39) G18C probably damaging Het
Alms1 G T 6: 85,592,340 (GRCm39) M397I probably benign Het
Ampd2 A T 3: 107,982,247 (GRCm39) M794K probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Casz1 A T 4: 149,013,762 (GRCm39) I109F possibly damaging Het
Ces5a G A 8: 94,247,623 (GRCm39) S297F possibly damaging Het
Col7a1 A G 9: 108,798,633 (GRCm39) D1762G probably damaging Het
Dsp A T 13: 38,375,446 (GRCm39) Y1077F probably benign Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erbb4 A G 1: 68,081,885 (GRCm39) Y1050H probably damaging Het
Fpgt A T 3: 154,792,289 (GRCm39) S579R probably benign Het
Gabra4 T A 5: 71,815,152 (GRCm39) M1L possibly damaging Het
Galk2 G A 2: 125,817,321 (GRCm39) S370N probably damaging Het
Gpr155 T A 2: 73,192,904 (GRCm39) T516S probably benign Het
Homez T C 14: 55,095,675 (GRCm39) N11S probably benign Het
Hspg2 G A 4: 137,239,775 (GRCm39) G494D probably damaging Het
Htr3b C T 9: 48,856,833 (GRCm39) R215Q probably benign Het
Igfbp4 A G 11: 98,932,654 (GRCm39) E111G probably benign Het
Igkv8-19 T C 6: 70,318,420 (GRCm39) T5A probably benign Het
Insrr A G 3: 87,716,002 (GRCm39) K566E probably damaging Het
Iqsec3 A G 6: 121,450,317 (GRCm39) V69A probably benign Het
Kdm5d T C Y: 940,702 (GRCm39) V1071A probably damaging Het
Kif28 A G 1: 179,563,548 (GRCm39) C143R probably damaging Het
Kpna6 T C 4: 129,551,590 (GRCm39) M65V probably benign Het
L3mbtl3 T C 10: 26,156,276 (GRCm39) S669G unknown Het
Man1a2 A T 3: 100,563,495 (GRCm39) I50N probably damaging Het
Map3k11 A T 19: 5,745,667 (GRCm39) M356L possibly damaging Het
Meioc A T 11: 102,566,414 (GRCm39) N677Y probably damaging Het
Myom3 A T 4: 135,528,674 (GRCm39) K1108M possibly damaging Het
Nav1 C T 1: 135,512,377 (GRCm39) E228K possibly damaging Het
Ncapd3 G A 9: 26,974,736 (GRCm39) W736* probably null Het
Nfkb1 T C 3: 135,309,552 (GRCm39) D514G probably damaging Het
Nnt T A 13: 119,494,111 (GRCm39) T657S possibly damaging Het
Or4k5 A G 14: 50,386,253 (GRCm39) F26S probably benign Het
Or51b4 A G 7: 103,530,992 (GRCm39) S153P probably benign Het
Oser1 A T 2: 163,253,336 (GRCm39) S58T possibly damaging Het
Pcdha5 T A 18: 37,094,556 (GRCm39) I355N possibly damaging Het
Pllp C G 8: 95,402,804 (GRCm39) G99A probably damaging Het
Pram1 A G 17: 33,861,106 (GRCm39) N509S probably benign Het
Prkd1 A C 12: 50,472,300 (GRCm39) N204K probably damaging Het
Prss23 G A 7: 89,159,253 (GRCm39) P272L probably damaging Het
Pxdn T C 12: 30,055,824 (GRCm39) F1057L probably damaging Het
Rapgef5 T A 12: 117,719,702 (GRCm39) S777R probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rfx3 A T 19: 27,803,448 (GRCm39) M265K probably benign Het
S100a7a C A 3: 90,565,119 (GRCm39) H105N probably benign Het
Serpinb3b T C 1: 107,084,625 (GRCm39) D132G probably damaging Het
Sp7 T A 15: 102,274,822 (GRCm39) probably benign Het
Tacstd2 A G 6: 67,512,140 (GRCm39) F184S possibly damaging Het
Trdc C A 14: 54,381,259 (GRCm39) probably benign Het
Trpa1 T A 1: 14,974,486 (GRCm39) H232L probably benign Het
Trpc3 G T 3: 36,709,294 (GRCm39) T394K probably benign Het
Tuba3b G A 6: 145,566,847 (GRCm39) V363I possibly damaging Het
Tubb2a C A 13: 34,258,962 (GRCm39) R276L probably benign Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Wdr26 A G 1: 181,036,638 (GRCm39) V166A probably benign Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Xirp2 G A 2: 67,339,756 (GRCm39) G666R probably damaging Het
Zfp131 T C 13: 120,237,516 (GRCm39) K247E probably 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
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
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
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'- AAGGCAGGCTGTTTTAAGACC -3'
(R):5'- CCATCTCTAAGCCATAGTTCTTACTGG -3'

Sequencing Primer
(F):5'- CAGGCTGTTTTAAGACCATCTG -3'
(R):5'- CACAGATGCTATGGTACTTGATG -3'
Posted On 2019-12-03