Incidental Mutation 'R2170:4933434E20Rik'
ID 237414
Institutional Source Beutler Lab
Gene Symbol 4933434E20Rik
Ensembl Gene ENSMUSG00000027942
Gene Name RIKEN cDNA 4933434E20 gene
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2170 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89958941-89969754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89963611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 89 (L89Q)
Ref Sequence ENSEMBL: ENSMUSP00000066840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029552] [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000068798] [ENSMUST00000090908] [ENSMUST00000159064] [ENSMUST00000162114] [ENSMUST00000160640] [ENSMUST00000198322] [ENSMUST00000196633] [ENSMUST00000161918] [ENSMUST00000196843] [ENSMUST00000197903] [ENSMUST00000195995] [ENSMUST00000199929] [ENSMUST00000199834]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029552
AA Change: L89Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: L89Q

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029553
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520

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
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520

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: ENSMUST00000068798
AA Change: L89Q

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: L89Q

DomainStartEndE-ValueType
Pfam:NICE-3 1 171 2.6e-70 PFAM
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: ENSMUST00000159064
AA Change: L89Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: L89Q

DomainStartEndE-ValueType
Pfam:NICE-3 6 188 4.2e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159202
SMART Domains Protein: ENSMUSP00000123777
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 61 2.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162114
AA Change: L89Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: L89Q

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.4e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160640
AA Change: L89Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: L89Q

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 3.2e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160263
Predicted Effect probably benign
Transcript: ENSMUST00000198322
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520

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: ENSMUST00000196633
SMART Domains Protein: ENSMUSP00000143423
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 6.3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161918
SMART Domains Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 64 2.2e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196843
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520

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: ENSMUST00000197903
SMART Domains Protein: ENSMUSP00000143519
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 81 7e-32 PDB
Blast:UBA 50 81 7e-16 BLAST
SCOP:d1efub3 51 81 3e-8 SMART
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 probably benign
Transcript: ENSMUST00000199929
SMART Domains Protein: ENSMUSP00000142488
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 57 2e-12 PDB
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,896 (GRCm39) S404P probably damaging Het
Atxn2l T A 7: 126,102,411 (GRCm39) probably benign Het
Bcl6 A G 16: 23,793,680 (GRCm39) F89S probably damaging Het
Ccdc168 A T 1: 44,095,168 (GRCm39) S1977T probably benign Het
Ccr1l1 C A 9: 123,778,172 (GRCm39) V92F possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Chrne T C 11: 70,509,323 (GRCm39) N86S probably damaging Het
Copg2 CCTCATC CC 6: 30,789,757 (GRCm39) probably null Het
Elapor2 A G 5: 9,529,206 (GRCm39) D221G probably damaging Het
Eps8l2 T C 7: 140,921,984 (GRCm39) S21P probably benign Het
Glb1 CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 9: 114,302,873 (GRCm39) probably benign Het
Gngt2 A G 11: 95,728,071 (GRCm39) probably benign Het
Hecw2 T A 1: 53,981,956 (GRCm39) E135V probably damaging Het
Hmcn2 G A 2: 31,270,293 (GRCm39) A1177T probably benign Het
Itga10 T C 3: 96,557,773 (GRCm39) V272A probably damaging Het
Kif17 A G 4: 138,015,682 (GRCm39) I418M probably benign Het
Knl1 T C 2: 118,918,075 (GRCm39) probably null Het
Lamc1 C T 1: 153,124,888 (GRCm39) A628T probably benign Het
Mag A T 7: 30,608,412 (GRCm39) L234* probably null Het
Muc5ac T A 7: 141,366,084 (GRCm39) V2080E possibly damaging Het
Myo18b T C 5: 112,871,724 (GRCm39) D2119G probably benign Het
Ncam1 C T 9: 49,709,981 (GRCm39) A17T probably benign Het
Nipbl A G 15: 8,322,702 (GRCm39) Y2570H probably damaging Het
Oasl2 T C 5: 115,044,861 (GRCm39) V129A probably damaging Het
Or14a257 T A 7: 86,137,778 (GRCm39) H327L probably benign Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Podn A T 4: 107,879,730 (GRCm39) L85Q probably damaging Het
Ppp1r12c A T 7: 4,485,805 (GRCm39) D680E possibly damaging Het
Prdm14 G A 1: 13,192,684 (GRCm39) L352F probably damaging Het
Prob1 G T 18: 35,787,790 (GRCm39) Q155K probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Shoc1 A G 4: 59,069,215 (GRCm39) L737S possibly damaging Het
Stard5 A G 7: 83,282,366 (GRCm39) T60A probably benign Het
Syt7 A G 19: 10,416,744 (GRCm39) K402E probably damaging Het
Tll2 T A 19: 41,171,714 (GRCm39) D69V probably damaging Het
Vmn1r40 T C 6: 89,691,957 (GRCm39) F258S probably benign Het
Zfp759 T A 13: 67,284,812 (GRCm39) Y19N possibly damaging Het
Other mutations in 4933434E20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:4933434E20Rik APN 3 89,960,400 (GRCm39) missense possibly damaging 0.65
IGL01621:4933434E20Rik APN 3 89,971,809 (GRCm39) missense possibly damaging 0.82
IGL01984:4933434E20Rik APN 3 89,970,537 (GRCm39) missense probably benign 0.00
IGL02005:4933434E20Rik APN 3 89,965,927 (GRCm39) missense probably damaging 1.00
R0446:4933434E20Rik UTSW 3 89,971,766 (GRCm39) missense probably benign 0.00
R1717:4933434E20Rik UTSW 3 89,963,544 (GRCm39) missense probably benign 0.23
R1816:4933434E20Rik UTSW 3 89,960,398 (GRCm39) missense possibly damaging 0.89
R2299:4933434E20Rik UTSW 3 89,971,845 (GRCm39) missense possibly damaging 0.88
R2981:4933434E20Rik UTSW 3 89,965,938 (GRCm39) missense probably benign 0.00
R3879:4933434E20Rik UTSW 3 89,970,561 (GRCm39) unclassified probably benign
R4065:4933434E20Rik UTSW 3 89,966,073 (GRCm39) nonsense probably null
R4724:4933434E20Rik UTSW 3 89,960,890 (GRCm39) missense probably damaging 0.99
R4724:4933434E20Rik UTSW 3 89,960,849 (GRCm39) missense probably damaging 1.00
R4724:4933434E20Rik UTSW 3 89,960,848 (GRCm39) missense probably damaging 1.00
R4835:4933434E20Rik UTSW 3 89,970,516 (GRCm39) missense probably benign 0.22
R5076:4933434E20Rik UTSW 3 89,963,559 (GRCm39) missense probably benign 0.01
R6126:4933434E20Rik UTSW 3 89,963,881 (GRCm39) missense probably damaging 0.98
R6337:4933434E20Rik UTSW 3 89,969,040 (GRCm39) missense probably benign 0.03
R6562:4933434E20Rik UTSW 3 89,970,543 (GRCm39) missense probably benign 0.38
R7312:4933434E20Rik UTSW 3 89,969,021 (GRCm39) missense probably benign 0.07
R7316:4933434E20Rik UTSW 3 89,969,020 (GRCm39) missense probably benign
R7473:4933434E20Rik UTSW 3 89,965,960 (GRCm39) critical splice donor site probably null
R7990:4933434E20Rik UTSW 3 89,970,549 (GRCm39) missense probably damaging 0.98
R8125:4933434E20Rik UTSW 3 89,972,818 (GRCm39) missense possibly damaging 0.92
R9268:4933434E20Rik UTSW 3 89,969,030 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ATATGCTCTGTCCCCTTTACAAC -3'
(R):5'- GGCATCTAGAGCTTTCATTCTGT -3'

Sequencing Primer
(F):5'- CCCCTTTACAACTTGTTGGGAAACAG -3'
(R):5'- AGACTAGTCTTAGTGATCACTTGC -3'
Posted On 2014-10-02