Incidental Mutation 'R1175:Ubap2l'
ID 99906
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 039248-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1175 (G1)
Quality Score 150
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: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Abca17 T C 17: 24,508,325 (GRCm39) E1070G possibly damaging Het
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anapc1 C A 2: 128,522,108 (GRCm39) C150F probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Arhgef18 T A 8: 3,439,023 (GRCm39) probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
C9orf72 C A 4: 35,218,630 (GRCm39) E76D probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cntnap5c C A 17: 58,671,241 (GRCm39) T1143K possibly damaging Het
Col7a1 A C 9: 108,784,402 (GRCm39) T137P unknown Het
Defb8 C T 8: 19,495,910 (GRCm39) G50E probably damaging Het
Dimt1 T A 13: 107,086,193 (GRCm39) probably benign Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eci2 G T 13: 35,177,087 (GRCm39) N24K 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
Fbxw11 T C 11: 32,661,922 (GRCm39) C121R probably damaging Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Gab1 C A 8: 81,511,471 (GRCm39) R458L probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gm19965 T A 1: 116,748,550 (GRCm39) probably benign Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Itpkc T C 7: 26,927,195 (GRCm39) I240V probably benign Het
Jakmip3 A G 7: 138,629,515 (GRCm39) D552G probably damaging Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Kdm3a T C 6: 71,577,011 (GRCm39) E768G possibly damaging Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Lamc1 T C 1: 153,122,977 (GRCm39) probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mast1 T C 8: 85,651,956 (GRCm39) E342G probably benign Het
Mgat5b T C 11: 116,868,622 (GRCm39) L515P probably damaging Het
Mink1 A G 11: 70,502,166 (GRCm39) D985G probably benign Het
Mphosph9 A G 5: 124,453,739 (GRCm39) V191A possibly damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Psmd8 A T 7: 28,875,598 (GRCm39) Y174N probably damaging Het
Ptgdr2 C A 19: 10,918,292 (GRCm39) R270S possibly damaging Het
Rasal2 A G 1: 156,975,218 (GRCm39) M1172T probably damaging Het
Rif1 A G 2: 51,997,640 (GRCm39) probably benign Het
Rnf123 C T 9: 107,954,572 (GRCm39) R48H probably benign Het
Rsrc1 T C 3: 67,263,551 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sis A G 3: 72,865,437 (GRCm39) probably benign Het
Skint4 T C 4: 111,981,793 (GRCm39) M246T probably benign Het
Snrnp200 C A 2: 127,070,997 (GRCm39) R1093S probably damaging Het
Sp100 A G 1: 85,629,141 (GRCm39) N471D possibly damaging Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Sufu T C 19: 46,389,703 (GRCm39) probably null Het
Synpo2l G A 14: 20,718,235 (GRCm39) T10I possibly damaging Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tent4b T A 8: 88,978,635 (GRCm39) F445L probably damaging Het
Terb1 G A 8: 105,210,938 (GRCm39) T363I probably benign Het
Timd4 C T 11: 46,708,498 (GRCm39) P175S probably damaging Het
Tlr3 C A 8: 45,850,171 (GRCm39) V833L probably damaging Het
Tpst2 T A 5: 112,455,911 (GRCm39) M150K probably damaging Het
Trim67 T A 8: 125,543,774 (GRCm39) V378E probably damaging Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Uimc1 G A 13: 55,176,415 (GRCm39) T701I possibly damaging Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn1r60 A G 7: 5,547,621 (GRCm39) S160P 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
Zfp457 G A 13: 67,441,748 (GRCm39) P180S 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
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