Incidental Mutation 'IGL00496:4933434E20Rik'
ID6838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933434E20Rik
Ensembl Gene ENSMUSG00000027942
Gene NameRIKEN cDNA 4933434E20 gene
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00496
Quality Score
Status
Chromosome3
Chromosomal Location90051636-90068347 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 90053093 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 14 (V14M)
Ref Sequence ENSEMBL: ENSMUSP00000123740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029552] [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000068798] [ENSMUST00000090908] [ENSMUST00000159064] [ENSMUST00000160640] [ENSMUST00000161918] [ENSMUST00000162114] [ENSMUST00000195995] [ENSMUST00000196633] [ENSMUST00000196843] [ENSMUST00000196917] [ENSMUST00000197903] [ENSMUST00000198322] [ENSMUST00000199834] [ENSMUST00000199929]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029552
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: V14M

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 possibly damaging
Transcript: ENSMUST00000068798
AA Change: V14M

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: V14M

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 possibly damaging
Transcript: ENSMUST00000159064
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: V14M

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 noncoding transcript
Transcript: ENSMUST00000160263
Predicted Effect possibly damaging
Transcript: ENSMUST00000160640
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: V14M

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 3.2e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161874
Predicted Effect possibly damaging
Transcript: ENSMUST00000161918
AA Change: V14M

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
AA Change: V14M

DomainStartEndE-ValueType
Pfam:NICE-3 1 64 2.2e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162114
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: V14M

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.4e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162595
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 noncoding transcript
Transcript: ENSMUST00000196568
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: 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: ENSMUST00000196917
SMART Domains Protein: ENSMUSP00000142602
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 50 2e-7 PDB
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 noncoding transcript
Transcript: ENSMUST00000198282
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: 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
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 C A 10: 14,450,578 probably null Het
Ankmy1 A G 1: 92,886,266 L397P probably damaging Het
Atp6v1c1 A G 15: 38,686,856 K232E probably damaging Het
Cnfn G T 7: 25,367,960 probably benign Het
Copb2 A G 9: 98,570,318 T52A probably benign Het
Daw1 A C 1: 83,197,236 L152F probably damaging Het
Gpr87 A T 3: 59,179,790 I98K probably damaging Het
Il17a G A 1: 20,732,283 R72H probably damaging Het
Lmtk2 A G 5: 144,174,694 Q744R probably benign Het
Micall1 G A 15: 79,115,021 probably benign Het
Micall2 T C 5: 139,716,328 T387A probably benign Het
Nckap1 T A 2: 80,506,202 I1057F possibly damaging Het
Nr1h3 T C 2: 91,190,199 D263G probably damaging Het
Nrip1 A T 16: 76,293,703 V322E possibly damaging Het
Pck1 T C 2: 173,154,118 probably null Het
Ppp3r2 A G 4: 49,681,773 I59T possibly damaging Het
Pradc1 A G 6: 85,447,966 probably null Het
Psmd14 A G 2: 61,760,682 Y32C probably damaging Het
Rrp12 A C 19: 41,878,027 probably null Het
Scaf8 A T 17: 3,171,134 I299F unknown Het
Selenoo A G 15: 89,095,672 D341G probably damaging Het
Slc1a6 C A 10: 78,793,308 N186K probably damaging Het
Smarcc2 T A 10: 128,463,055 S102R probably damaging Het
Stambpl1 T A 19: 34,240,030 V423E probably damaging Het
Svep1 A C 4: 58,069,001 C2928W possibly damaging Het
Tmed9 T C 13: 55,593,521 Y43H probably benign Het
Ttn T C 2: 76,740,747 T24855A possibly damaging Het
Usp7 A G 16: 8,695,113 V795A probably damaging Het
Wdr17 A C 8: 54,659,579 probably benign Het
Other mutations in 4933434E20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:4933434E20Rik APN 3 90064502 missense possibly damaging 0.82
IGL01984:4933434E20Rik APN 3 90063230 missense probably benign 0.00
IGL02005:4933434E20Rik APN 3 90058620 missense probably damaging 1.00
R0446:4933434E20Rik UTSW 3 90064459 missense probably benign 0.00
R1717:4933434E20Rik UTSW 3 90056237 missense probably benign 0.23
R1816:4933434E20Rik UTSW 3 90053091 missense possibly damaging 0.89
R2170:4933434E20Rik UTSW 3 90056304 missense probably benign 0.07
R2299:4933434E20Rik UTSW 3 90064538 missense possibly damaging 0.88
R2981:4933434E20Rik UTSW 3 90058631 missense probably benign 0.00
R3879:4933434E20Rik UTSW 3 90063254 unclassified probably benign
R4065:4933434E20Rik UTSW 3 90058766 nonsense probably null
R4724:4933434E20Rik UTSW 3 90053541 missense probably damaging 1.00
R4724:4933434E20Rik UTSW 3 90053542 missense probably damaging 1.00
R4724:4933434E20Rik UTSW 3 90053583 missense probably damaging 0.99
R4835:4933434E20Rik UTSW 3 90063209 missense probably benign 0.22
R5076:4933434E20Rik UTSW 3 90056252 missense probably benign 0.01
R6126:4933434E20Rik UTSW 3 90056574 missense probably damaging 0.98
R6337:4933434E20Rik UTSW 3 90061733 missense probably benign 0.03
R6562:4933434E20Rik UTSW 3 90063236 missense probably benign 0.38
R7312:4933434E20Rik UTSW 3 90061714 missense probably benign 0.07
R7316:4933434E20Rik UTSW 3 90061713 missense probably benign
R7473:4933434E20Rik UTSW 3 90058653 critical splice donor site probably null
Posted On2012-04-20