Incidental Mutation 'R7039:Ubap2l'
ID 546921
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 045139-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89907447-89959935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89909662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 56 (P56H)
Ref Sequence ENSEMBL: ENSMUSP00000142719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000079724] [ENSMUST00000090908] [ENSMUST00000195995] [ENSMUST00000196843] [ENSMUST00000197725] [ENSMUST00000197767] [ENSMUST00000197786] [ENSMUST00000198322] [ENSMUST00000198782] [ENSMUST00000199050] [ENSMUST00000199163] [ENSMUST00000199740] [ENSMUST00000199834]
AlphaFold Q80X50
Predicted Effect probably damaging
Transcript: ENSMUST00000029553
AA Change: P1051H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: P1051H

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 unknown
Transcript: ENSMUST00000064639
AA Change: P1056H
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: P1056H

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: ENSMUST00000079724
SMART Domains Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
low complexity region 248 260 N/A INTRINSIC
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: 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 unknown
Transcript: ENSMUST00000196843
AA Change: P1051H
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: P1051H

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: ENSMUST00000197177
Predicted Effect probably benign
Transcript: ENSMUST00000197725
SMART Domains Protein: ENSMUSP00000142741
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 119 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197767
SMART Domains Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
low complexity region 245 257 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197786
SMART Domains Protein: ENSMUSP00000142627
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000198322
AA Change: P1030H
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: P1030H

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: ENSMUST00000198782
SMART Domains Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199050
AA Change: P56H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142719
Gene: ENSMUSG00000042520
AA Change: P56H

DomainStartEndE-ValueType
low complexity region 43 56 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199163
Predicted Effect probably benign
Transcript: ENSMUST00000199740
SMART Domains Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
SCOP:d1qbkb_ 4 18 4e-3 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b A T 4: 56,741,022 (GRCm39) L112Q probably damaging Het
Agap3 A C 5: 24,688,399 (GRCm39) I396L probably benign Het
AI987944 G T 7: 41,023,880 (GRCm39) S366R probably benign Het
Aox3 A G 1: 58,215,714 (GRCm39) T1049A probably damaging Het
Ap1g2 A T 14: 55,340,111 (GRCm39) L407* probably null Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Brd3 T C 2: 27,346,929 (GRCm39) K402E probably damaging Het
Cc2d2b A T 19: 40,790,845 (GRCm39) D935V probably damaging Het
Cenpe A G 3: 134,961,217 (GRCm39) N1904D probably benign Het
Cfap74 G T 4: 155,538,565 (GRCm39) probably null Het
Chrdl2 A G 7: 99,677,879 (GRCm39) T261A probably damaging Het
Cyp4a14 G A 4: 115,348,278 (GRCm39) R400C probably benign Het
Dhfr G A 13: 92,491,791 (GRCm39) V9I probably benign Het
Epha4 A G 1: 77,483,422 (GRCm39) S196P probably damaging Het
Evc2 T A 5: 37,579,232 (GRCm39) L1115Q probably damaging Het
Fat3 T A 9: 16,287,561 (GRCm39) E654V probably damaging Het
Fcgbpl1 G A 7: 27,839,573 (GRCm39) R462Q possibly damaging Het
Fer1l4 C T 2: 155,878,650 (GRCm39) V14I probably benign Het
Frmd5 A T 2: 121,378,128 (GRCm39) probably benign Het
Helz T C 11: 107,510,144 (GRCm39) probably null Het
Igkv6-13 T C 6: 70,434,498 (GRCm39) S116G probably benign Het
Iscu T C 5: 113,914,833 (GRCm39) V115A possibly damaging Het
Jade2 C A 11: 51,719,186 (GRCm39) K253N probably damaging Het
Katnal2 A G 18: 77,134,868 (GRCm39) probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Magi3 T C 3: 103,958,699 (GRCm39) D462G probably damaging Het
Map3k14 T C 11: 103,111,861 (GRCm39) N940S probably damaging Het
Masp2 A T 4: 148,687,043 (GRCm39) M1L probably benign Het
Mga G A 2: 119,763,159 (GRCm39) V1272I probably benign Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Msto1 A C 3: 88,818,697 (GRCm39) V287G probably damaging Het
Myo5b T A 18: 74,834,599 (GRCm39) D886E probably benign Het
Nek10 T C 14: 14,826,946 (GRCm38) I48T possibly damaging Het
Nek10 A T 14: 14,986,700 (GRCm38) R1013W probably damaging Het
Nipsnap3a T C 4: 53,000,130 (GRCm39) V194A probably damaging Het
Nlrp9a A T 7: 26,267,367 (GRCm39) T766S probably benign Het
Nol10 T A 12: 17,479,185 (GRCm39) S672T possibly damaging Het
Or4a80 A T 2: 89,583,095 (GRCm39) F26I probably benign Het
Or4c121 A T 2: 89,023,790 (GRCm39) I196N probably damaging Het
Or8d1b T A 9: 38,887,283 (GRCm39) F104I probably damaging Het
Or8j3c A T 2: 86,253,177 (GRCm39) I281K possibly damaging Het
Patj T A 4: 98,457,315 (GRCm39) N1272K probably damaging Het
Peak1 T C 9: 56,165,093 (GRCm39) E945G probably benign Het
Peg3 C T 7: 6,720,858 (GRCm39) D16N probably damaging Het
Pik3r4 T G 9: 105,554,089 (GRCm39) I1082M possibly damaging Het
Plekhg5 T A 4: 152,192,242 (GRCm39) M472K possibly damaging Het
Plekhm1 T C 11: 103,286,054 (GRCm39) D127G probably damaging Het
Ppfia4 G A 1: 134,239,853 (GRCm39) S908L probably damaging Het
Psmc3 A G 2: 90,885,391 (GRCm39) N60S probably benign Het
Rapgef1 T A 2: 29,616,226 (GRCm39) D697E probably damaging Het
Rapgef3 T A 15: 97,659,449 (GRCm39) H54L probably benign Het
Rhobtb3 G A 13: 76,020,572 (GRCm39) R577* probably null Het
Safb2 T C 17: 56,871,594 (GRCm39) E218G possibly damaging Het
Scaf1 C T 7: 44,657,850 (GRCm39) R343H probably damaging Het
Snx24 G A 18: 53,473,307 (GRCm39) probably null Het
Tbc1d1 T C 5: 64,442,100 (GRCm39) F707L probably benign Het
Tcaf2 T C 6: 42,603,074 (GRCm39) T829A probably damaging Het
Tcea2 C T 2: 181,328,711 (GRCm39) Q248* probably null Het
Tcirg1 A T 19: 3,946,666 (GRCm39) L729Q probably damaging Het
Thap3 A G 4: 152,070,149 (GRCm39) F82L probably damaging Het
Ttk T A 9: 83,750,145 (GRCm39) M700K probably damaging Het
Ubr2 A G 17: 47,321,139 (GRCm39) S3P probably benign Het
Uchl3 C T 14: 101,923,128 (GRCm39) probably benign Het
Vmn2r111 T A 17: 22,767,165 (GRCm39) E777D probably damaging Het
Vmn2r20 A T 6: 123,363,082 (GRCm39) D567E probably damaging Het
Vps13c T G 9: 67,845,045 (GRCm39) L2043R probably damaging Het
Zan T G 5: 137,398,396 (GRCm39) D4212A unknown Het
Zap70 C T 1: 36,817,832 (GRCm39) P278S probably benign Het
Zbtb8b A T 4: 129,321,478 (GRCm39) M461K possibly damaging Het
Zfat T G 15: 68,052,211 (GRCm39) I528L probably benign Het
Zfp532 T G 18: 65,771,834 (GRCm39) V784G 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
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
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'- ACTGTTCATGTTATGTGCGC -3'
(R):5'- TGAGGCCTCAGAAAGTCCTAGG -3'

Sequencing Primer
(F):5'- ATGTGCTGTGTGCCCCTG -3'
(R):5'- GGCCTCAGAAAGTCCTAGGATTCTTC -3'
Posted On 2019-05-13