Incidental Mutation 'R0619:Ubap2l'
ID 58518
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 038808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0619 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89924527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 680 (V680G)
Ref Sequence ENSEMBL: ENSMUSP00000143459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000090908] [ENSMUST00000195995] [ENSMUST00000196843] [ENSMUST00000198322] [ENSMUST00000199834]
AlphaFold Q80X50
Predicted Effect probably benign
Transcript: ENSMUST00000029553
AA Change: V680G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: V680G

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
AA Change: V685G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: V685G

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 unknown
Transcript: ENSMUST00000090908
AA Change: V660G
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: V660G

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: ENSMUST00000195995
AA Change: V691G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: V691G

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 noncoding transcript
Transcript: ENSMUST00000196747
Predicted Effect probably benign
Transcript: ENSMUST00000196843
AA Change: V680G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: V680G

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: ENSMUST00000198322
AA Change: V660G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: V660G

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: ENSMUST00000199834
AA Change: V691G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: V691G

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 unknown
Transcript: ENSMUST00000197177
AA Change: V181G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200320
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 G A 8: 120,339,739 (GRCm39) D74N probably benign Het
Adgre4 T A 17: 56,127,679 (GRCm39) V573D possibly damaging Het
Ak7 A G 12: 105,699,770 (GRCm39) K230E probably damaging Het
Amdhd2 T C 17: 24,375,562 (GRCm39) D375G possibly damaging Het
Anpep T C 7: 79,490,757 (GRCm39) E253G probably benign Het
Bbs7 A G 3: 36,661,725 (GRCm39) L158S probably benign Het
Bdp1 T C 13: 100,174,366 (GRCm39) T2057A probably benign Het
C2 G T 17: 35,091,479 (GRCm39) H61Q probably damaging Het
Ccdc18 A G 5: 108,328,282 (GRCm39) K661E probably benign Het
Cdh23 C T 10: 60,269,556 (GRCm39) V655I probably damaging Het
Cep78 T C 19: 15,956,226 (GRCm39) T238A probably damaging Het
Ces2a T A 8: 105,462,742 (GRCm39) N110K probably benign Het
Crat T C 2: 30,299,996 (GRCm39) D128G probably benign Het
Dclre1a A T 19: 56,533,841 (GRCm39) M233K probably benign Het
Dsg4 T C 18: 20,594,416 (GRCm39) V515A probably benign Het
Fer1l6 T C 15: 58,534,784 (GRCm39) probably null Het
Fryl T C 5: 73,226,074 (GRCm39) D1863G probably benign Het
Fsip2 T A 2: 82,774,484 (GRCm39) L57Q probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Iqsec1 T C 6: 90,647,388 (GRCm39) probably null Het
Kcnn3 A C 3: 89,559,337 (GRCm39) T536P probably damaging Het
Kctd3 T C 1: 188,710,840 (GRCm39) D441G probably damaging Het
Kifc3 G A 8: 95,829,293 (GRCm39) T528M probably benign Het
Kmt2c G A 5: 25,503,914 (GRCm39) T3798I probably benign Het
Map1a T A 2: 121,135,736 (GRCm39) M1946K probably damaging Het
Mfhas1 T A 8: 36,057,829 (GRCm39) V768E probably benign Het
Mroh8 C A 2: 157,107,001 (GRCm39) V223F possibly damaging Het
Mss51 A T 14: 20,537,641 (GRCm39) V30E probably benign Het
Mtmr10 G A 7: 63,970,961 (GRCm39) R392H probably benign Het
Mup3 T C 4: 62,004,198 (GRCm39) N105S probably benign Het
Myh7b T C 2: 155,453,642 (GRCm39) M22T probably benign Het
Or1o2 T A 17: 37,543,046 (GRCm39) I72F possibly damaging Het
Or2aj5 T A 16: 19,425,022 (GRCm39) Y132F probably damaging Het
Or5m9 T A 2: 85,877,655 (GRCm39) Y276* probably null Het
Os9 A G 10: 126,956,860 (GRCm39) I43T probably damaging Het
Pkhd1l1 T C 15: 44,347,234 (GRCm39) L200P probably damaging Het
Ptpru C T 4: 131,548,198 (GRCm39) V100M possibly damaging Het
Rnf6 G A 5: 146,147,531 (GRCm39) R496C possibly damaging Het
Rsad1 C T 11: 94,433,465 (GRCm39) R407Q probably damaging Het
Rspo3 T C 10: 29,380,633 (GRCm39) D127G probably damaging Het
Sbf2 T A 7: 109,909,469 (GRCm39) T1760S possibly damaging Het
Sh2d3c T A 2: 32,643,037 (GRCm39) V588E probably damaging Het
Siglech A T 7: 55,418,910 (GRCm39) T238S probably benign Het
Slc15a2 T A 16: 36,579,669 (GRCm39) N328I probably damaging Het
Slc16a11 G T 11: 70,105,858 (GRCm39) G94C probably damaging Het
Stub1 T C 17: 26,050,296 (GRCm39) probably null Het
Tacc2 T A 7: 130,318,483 (GRCm39) V40D probably damaging Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Trappc14 A G 5: 138,262,088 (GRCm39) probably benign Het
Tsen54 A G 11: 115,705,890 (GRCm39) E69G probably damaging Het
Tsks A G 7: 44,600,258 (GRCm39) E150G probably damaging Het
Usp16 A T 16: 87,269,052 (GRCm39) H315L probably benign Het
Vav2 A G 2: 27,186,133 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,256,715 (GRCm39) F1562L possibly damaging Het
Zfp764 C A 7: 127,005,713 (GRCm39) V22L probably benign 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
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
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'- TGTCACTTCTCACAAAAGCAGGGC -3'
(R):5'- GTGTGGTGTTAGGAATGGAACCCAG -3'

Sequencing Primer
(F):5'- GCAGGGCTAATGTAGTCTCTAAC -3'
(R):5'- agtctaccttgagttgtctctg -3'
Posted On 2013-07-11