Incidental Mutation 'R1172:Ubap2l'
ID 99528
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 039245-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1172 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89930807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 413 (S413T)
Ref Sequence ENSEMBL: ENSMUSP00000143254 (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: S402T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: S402T

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: S407T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: S407T

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: ENSMUST00000090908
AA Change: S382T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: S382T

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: S413T

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: S413T

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: ENSMUST00000196843
AA Change: S402T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: S402T

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 noncoding transcript
Transcript: ENSMUST00000196952
Predicted Effect probably benign
Transcript: ENSMUST00000198322
AA Change: S382T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: S382T

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: S413T

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: S413T

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 noncoding transcript
Transcript: ENSMUST00000200320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199301
Predicted Effect probably benign
Transcript: ENSMUST00000197177
Meta Mutation Damage Score 0.0621 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adam7 T G 14: 68,752,370 (GRCm39) K371N probably damaging Het
Adgrv1 A T 13: 81,705,182 (GRCm39) S1543T probably damaging Het
Agbl4 A T 4: 111,513,515 (GRCm39) probably benign Het
Arid1b T A 17: 5,389,575 (GRCm39) I1707N probably damaging Het
Atp10a T C 7: 58,453,514 (GRCm39) V864A probably benign Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bst1 A G 5: 43,982,750 (GRCm39) probably null Het
C9orf72 C A 4: 35,218,630 (GRCm39) E76D probably damaging Het
Cblb T C 16: 52,006,603 (GRCm39) probably benign Het
Ccdc28b T C 4: 129,514,682 (GRCm39) probably benign Het
Cmas G T 6: 142,702,604 (GRCm39) G36C probably benign Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Epc1 A C 18: 6,490,525 (GRCm39) Y31D probably damaging Het
Fbn1 A T 2: 125,236,607 (GRCm39) C358S probably benign Het
Fbxl13 A T 5: 21,825,602 (GRCm39) probably benign Het
Fermt2 T C 14: 45,697,425 (GRCm39) D642G possibly damaging Het
Fmnl2 A T 2: 52,962,286 (GRCm39) N257I probably damaging Het
Fry G A 5: 150,404,959 (GRCm39) W793* probably null Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21718 T C 14: 51,553,348 (GRCm39) noncoding transcript Het
Gpld1 A G 13: 25,141,549 (GRCm39) probably null Het
Gtf3c2 A T 5: 31,325,419 (GRCm39) Y500N probably damaging Het
Hbs1l A G 10: 21,180,537 (GRCm39) D73G probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Lamc2 A T 1: 153,042,033 (GRCm39) S34T probably damaging Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lrrc19 A T 4: 94,526,626 (GRCm39) Y310* probably null Het
Map3k5 G A 10: 19,932,394 (GRCm39) probably benign Het
Map7 G A 10: 20,121,045 (GRCm39) E92K probably damaging Het
Mettl24 G A 10: 40,613,704 (GRCm39) A148T probably benign Het
Mosmo A G 7: 120,329,745 (GRCm39) Y122C probably benign Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 T C 14: 69,429,434 (GRCm39) S151P probably damaging Het
Npm2 T A 14: 70,889,661 (GRCm39) K54* probably null Het
Npr1 T A 3: 90,368,689 (GRCm39) D457V probably benign Het
Nudt21 T C 8: 94,757,757 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Rftn2 A G 1: 55,250,376 (GRCm39) V123A probably damaging Het
Rpa1 A T 11: 75,203,219 (GRCm39) V392D probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Slc45a4 C T 15: 73,477,278 (GRCm39) probably benign Het
Syndig1l T A 12: 84,725,942 (GRCm39) probably null Het
Tctn1 G A 5: 122,389,752 (GRCm39) R257* probably null Het
Tenm4 A T 7: 96,497,251 (GRCm39) E1179V probably damaging Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn2r66 G T 7: 84,654,799 (GRCm39) D503E probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Vmn2r87 T C 10: 130,313,453 (GRCm39) T438A probably benign Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Ywhaq T C 12: 21,445,024 (GRCm39) N207S probably benign Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zfp981 G A 4: 146,622,221 (GRCm39) S382N 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
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
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
Posted On 2014-01-15