Incidental Mutation 'R6119:4930544D05Rik'
ID 485672
Institutional Source Beutler Lab
Gene Symbol 4930544D05Rik
Ensembl Gene ENSMUSG00000087279
Gene Name RIKEN cDNA 4930544D05 gene
Synonyms
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6119 (G1)
Quality Score 186.009
Status Validated
Chromosome 11
Chromosomal Location 70506674-70507716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70507317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 121 (A121T)
Ref Sequence ENSEMBL: ENSMUSP00000137259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102558] [ENSMUST00000144960] [ENSMUST00000180052] [ENSMUST00000135865] [ENSMUST00000102559]
AlphaFold J3QK56
Predicted Effect probably benign
Transcript: ENSMUST00000014753
SMART Domains Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 2.9e-65 PFAM
Pfam:Neur_chan_memb 247 475 6.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072237
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 837 874 N/A INTRINSIC
CNH 1026 1324 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072873
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 829 853 N/A INTRINSIC
CNH 1019 1317 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079244
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 314 338 N/A INTRINSIC
coiled coil region 348 493 N/A INTRINSIC
low complexity region 554 566 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 716 735 N/A INTRINSIC
low complexity region 826 850 N/A INTRINSIC
CNH 1016 1314 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102556
SMART Domains Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 5.4e-65 PFAM
Pfam:Neur_chan_memb 247 474 2.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102558
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 792 816 N/A INTRINSIC
CNH 982 1280 1.58e-113 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144960
AA Change: A121T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279
AA Change: A121T

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180052
AA Change: A121T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279
AA Change: A121T

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125387
Predicted Effect probably benign
Transcript: ENSMUST00000136663
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 140 2.3e-22 PFAM
Pfam:Pkinase 1 143 1.6e-30 PFAM
low complexity region 161 192 N/A INTRINSIC
coiled coil region 204 349 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
low complexity region 500 513 N/A INTRINSIC
low complexity region 573 592 N/A INTRINSIC
low complexity region 691 728 N/A INTRINSIC
CNH 880 1178 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135865
SMART Domains Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 101 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102559
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 800 824 N/A INTRINSIC
CNH 990 1288 1.58e-113 SMART
Meta Mutation Damage Score 0.1110 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging Het
Other mutations in 4930544D05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:4930544D05Rik APN 11 70,507,005 (GRCm39) missense possibly damaging 0.90
E0370:4930544D05Rik UTSW 11 70,507,252 (GRCm39) frame shift probably null
R0271:4930544D05Rik UTSW 11 70,507,474 (GRCm39) missense possibly damaging 0.62
R1887:4930544D05Rik UTSW 11 70,507,249 (GRCm39) missense probably damaging 0.98
R5066:4930544D05Rik UTSW 11 70,507,417 (GRCm39) missense probably benign 0.17
R6959:4930544D05Rik UTSW 11 70,507,485 (GRCm39) missense probably damaging 1.00
R8131:4930544D05Rik UTSW 11 70,506,834 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGGAGCCACCTTGTTAGAGG -3'
(R):5'- TTTATCCCAAACGCACCGG -3'

Sequencing Primer
(F):5'- CCTTGTTAGAGGTGCTGCTC -3'
(R):5'- TCCCCAGGGACCCCAAG -3'
Posted On 2017-08-16