Incidental Mutation 'R1432:Ubap2l'
ID 162283
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 039487-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1432 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89926635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 580 (T580A)
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: T580A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: T580A

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: T585A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: T585A

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: T560A
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: T560A

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: T591A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: T591A

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: T580A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: T580A

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: T560A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: T560A

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 unknown
Transcript: ENSMUST00000197177
AA Change: T81A
Predicted Effect probably benign
Transcript: ENSMUST00000199834
AA Change: T591A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: T591A

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: ENSMUST00000199301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199612
Meta Mutation Damage Score 0.0588 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,217,361 (GRCm39) probably null Het
9130401M01Rik A T 15: 57,892,256 (GRCm39) L117Q probably damaging Het
Abcb1b A G 5: 8,887,771 (GRCm39) K886E possibly damaging Het
Acaa2 A T 18: 74,920,198 (GRCm39) I9F probably damaging Het
Acap2 A T 16: 30,929,901 (GRCm39) S386T probably damaging Het
Acsm2 A T 7: 119,172,798 (GRCm39) I138F possibly damaging Het
Agl T C 3: 116,540,342 (GRCm39) Y1424C probably damaging Het
Aoc1l1 T A 6: 48,952,588 (GRCm39) F171Y probably damaging Het
Apc2 T C 10: 80,148,183 (GRCm39) V1079A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Armc8 C T 9: 99,405,185 (GRCm39) probably benign Het
Catsperb A G 12: 101,588,476 (GRCm39) Y953C probably damaging Het
Cdk13 G A 13: 17,893,001 (GRCm39) A720V probably damaging Het
Chka T C 19: 3,924,809 (GRCm39) probably benign Het
Clcc1 T C 3: 108,575,418 (GRCm39) I165T probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dip2c C A 13: 9,603,340 (GRCm39) P297Q probably damaging Het
Dnah17 A T 11: 117,914,153 (GRCm39) W4429R probably damaging Het
Dram2 T C 3: 106,478,082 (GRCm39) V138A possibly damaging Het
Dus4l T C 12: 31,698,770 (GRCm39) N78S probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ebf1 T C 11: 44,895,533 (GRCm39) probably benign Het
Epm2a T A 10: 11,266,587 (GRCm39) Y111N probably damaging Het
Gm773 T C X: 55,247,377 (GRCm39) T52A probably benign Het
Gpam C A 19: 55,067,693 (GRCm39) M483I probably damaging Het
Gpr12 T C 5: 146,520,235 (GRCm39) H229R probably damaging Het
Gpr149 T C 3: 62,438,439 (GRCm39) T573A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hells T A 19: 38,945,628 (GRCm39) probably null Het
Herc1 T A 9: 66,372,751 (GRCm39) N3102K probably benign Het
Herc3 A T 6: 58,893,827 (GRCm39) T968S possibly damaging Het
Ift88 A G 14: 57,674,736 (GRCm39) Y69C probably benign Het
Incenp G A 19: 9,862,890 (GRCm39) T388M unknown Het
Jrkl A G 9: 13,245,337 (GRCm39) F108S probably benign Het
Khdc1a A G 1: 21,420,542 (GRCm39) E54G possibly damaging Het
Kif6 T A 17: 49,927,728 (GRCm39) F58L probably damaging Het
Klk14 T C 7: 43,344,342 (GRCm39) S218P probably damaging Het
Kmt2e T C 5: 23,655,319 (GRCm39) M19T probably benign Het
Llgl1 G T 11: 60,599,380 (GRCm39) G454C probably damaging Het
Lyrm4 A G 13: 36,276,898 (GRCm39) V33A probably benign Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mgam T A 6: 40,733,301 (GRCm39) M692K probably damaging Het
Mmp28 C T 11: 83,333,765 (GRCm39) R392H probably damaging Het
Mpdz G A 4: 81,210,788 (GRCm39) T1699M probably damaging Het
Mrps11 T C 7: 78,433,310 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,866 (GRCm39) N504S probably benign Het
Msmo1 A G 8: 65,180,650 (GRCm39) probably benign Het
Mst1 A G 9: 107,961,403 (GRCm39) E571G probably benign Het
Myh14 T C 7: 44,265,723 (GRCm39) E1585G probably damaging Het
Myrfl A G 10: 116,613,332 (GRCm39) C824R probably damaging Het
Ncapd3 C T 9: 26,981,168 (GRCm39) probably benign Het
Nlrp4a G GGTTCTTC 7: 26,163,622 (GRCm39) probably null Het
Nos1 C T 5: 118,087,684 (GRCm39) probably benign Het
Notch3 T C 17: 32,383,198 (GRCm39) S47G probably benign Het
Npsr1 A G 9: 24,221,371 (GRCm39) Y122C probably damaging Het
Or10ak12 T C 4: 118,666,435 (GRCm39) M209V probably benign Het
Or1j11 C T 2: 36,311,655 (GRCm39) L82F probably damaging Het
Or5a1 G T 19: 12,097,603 (GRCm39) R158S possibly damaging Het
Or6c1b C T 10: 129,272,807 (GRCm39) T42I probably damaging Het
Or6k2 T A 1: 173,986,483 (GRCm39) V48E possibly damaging Het
Or8b9 T A 9: 37,766,548 (GRCm39) L145M possibly damaging Het
Otog G T 7: 45,950,007 (GRCm39) V2490F probably damaging Het
Pibf1 T C 14: 99,350,425 (GRCm39) V191A probably benign Het
Pip A G 6: 41,826,852 (GRCm39) M66V probably benign Het
Plxna2 C T 1: 194,449,771 (GRCm39) R830C probably benign Het
Prkca A T 11: 107,830,346 (GRCm39) V248E probably benign Het
Prmt7 T A 8: 106,963,916 (GRCm39) L253* probably null Het
Prrc2a G T 17: 35,372,888 (GRCm39) probably benign Het
Rasgrf1 A G 9: 89,894,853 (GRCm39) D1091G probably benign Het
Rbm7 C A 9: 48,401,245 (GRCm39) G161V probably benign Het
Scn1a A T 2: 66,152,773 (GRCm39) I736N probably damaging Het
Skint6 A G 4: 112,726,721 (GRCm39) probably benign Het
Slc22a2 C T 17: 12,803,195 (GRCm39) H10Y possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stam2 A G 2: 52,604,821 (GRCm39) probably benign Het
Stk40 T C 4: 126,030,626 (GRCm39) L282P probably damaging Het
Tas2r110 A G 6: 132,845,331 (GRCm39) N121D probably damaging Het
Tbc1d32 A G 10: 55,893,758 (GRCm39) Y1272H probably damaging Het
Thoc2l T C 5: 104,665,970 (GRCm39) F164S probably damaging Het
Tmem131l T C 3: 83,836,021 (GRCm39) D696G probably damaging Het
Trdmt1 T C 2: 13,524,657 (GRCm39) Y266C probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Twf2 T A 9: 106,092,012 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc5a A G 13: 55,152,285 (GRCm39) probably benign Het
Vmn2r85 T C 10: 130,261,155 (GRCm39) N394S possibly damaging Het
Wrn A T 8: 33,809,169 (GRCm39) 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
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
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'- ACTTTGCTAACCAAGGCCCAGG -3'
(R):5'- AGCACTCAGGAGGTTCAAAGCCAG -3'

Sequencing Primer
(F):5'- ACTACCTTAGCCTGAGTCAGGTC -3'
(R):5'- tgtgtagccctgactgtcc -3'
Posted On 2014-03-14