Incidental Mutation 'R4277:Nsun4'
ID 322734
Institutional Source Beutler Lab
Gene Symbol Nsun4
Ensembl Gene ENSMUSG00000028706
Gene Name NOL1/NOP2/Sun domain family, member 4
Synonyms 2810405F18Rik, 2310010O12Rik
MMRRC Submission 041078-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R4277 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115890202-115911076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115891479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 300 (G300D)
Ref Sequence ENSEMBL: ENSMUSP00000030475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030474] [ENSMUST00000030475] [ENSMUST00000165493]
AlphaFold C4P6S0
Predicted Effect probably benign
Transcript: ENSMUST00000030474
SMART Domains Protein: ENSMUSP00000030474
Gene: ENSMUSG00000028706

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 28 199 3.9e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030475
AA Change: G300D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706
AA Change: G300D

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Nol1_Nop2_Fmu 163 356 9.7e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165493
SMART Domains Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706

DomainStartEndE-ValueType
low complexity region 91 124 N/A INTRINSIC
low complexity region 277 290 N/A INTRINSIC
low complexity region 476 490 N/A INTRINSIC
low complexity region 553 565 N/A INTRINSIC
low complexity region 572 596 N/A INTRINSIC
low complexity region 677 700 N/A INTRINSIC
low complexity region 710 723 N/A INTRINSIC
low complexity region 733 756 N/A INTRINSIC
Meta Mutation Damage Score 0.9744 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,397,955 (GRCm39) probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cdh20 T A 1: 109,993,418 (GRCm39) I291K probably benign Het
Cdhr3 T G 12: 33,110,232 (GRCm39) S351R probably null Het
Dnah10 T C 5: 124,809,394 (GRCm39) S221P probably benign Het
Dstyk G A 1: 132,383,151 (GRCm39) probably null Het
Ern1 T C 11: 106,298,007 (GRCm39) I705V probably benign Het
Folh1 A G 7: 86,412,123 (GRCm39) probably null Het
Hemk1 A G 9: 107,205,728 (GRCm39) Y260H possibly damaging Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Ldhc G A 7: 46,515,890 (GRCm39) A62T probably benign Het
Ndufs1 C T 1: 63,209,256 (GRCm39) V36I possibly damaging Het
Nsun5 A G 5: 135,398,914 (GRCm39) Y26C probably damaging Het
Ntn4 T C 10: 93,577,072 (GRCm39) I580T possibly damaging Het
Or7d10 A G 9: 19,831,685 (GRCm39) Y60C possibly damaging Het
Rasal2 A T 1: 156,984,696 (GRCm39) I992N possibly damaging Het
Rasgrp4 T A 7: 28,852,019 (GRCm39) probably benign Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spp2 T C 1: 88,338,873 (GRCm39) F79L probably damaging Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Trpv3 A G 11: 73,187,264 (GRCm39) T699A probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Other mutations in Nsun4
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB009:Nsun4 UTSW 4 115,901,997 (GRCm39) missense probably damaging 1.00
BB019:Nsun4 UTSW 4 115,901,997 (GRCm39) missense probably damaging 1.00
R0089:Nsun4 UTSW 4 115,892,970 (GRCm39) missense probably benign 0.01
R0306:Nsun4 UTSW 4 115,910,019 (GRCm39) nonsense probably null
R0365:Nsun4 UTSW 4 115,901,935 (GRCm39) missense probably damaging 1.00
R1440:Nsun4 UTSW 4 115,910,147 (GRCm39) missense possibly damaging 0.83
R1624:Nsun4 UTSW 4 115,891,397 (GRCm39) missense probably benign 0.05
R2058:Nsun4 UTSW 4 115,910,877 (GRCm39) splice site probably null
R2262:Nsun4 UTSW 4 115,910,147 (GRCm39) missense probably benign 0.27
R2438:Nsun4 UTSW 4 115,905,794 (GRCm39) missense probably benign 0.01
R3029:Nsun4 UTSW 4 115,909,922 (GRCm39) missense possibly damaging 0.83
R4012:Nsun4 UTSW 4 115,908,259 (GRCm39) missense possibly damaging 0.66
R4162:Nsun4 UTSW 4 115,891,391 (GRCm39) nonsense probably null
R4166:Nsun4 UTSW 4 115,891,248 (GRCm39) missense probably damaging 0.98
R4433:Nsun4 UTSW 4 115,897,327 (GRCm39) missense possibly damaging 0.75
R4450:Nsun4 UTSW 4 115,908,453 (GRCm39) nonsense probably null
R5077:Nsun4 UTSW 4 115,905,781 (GRCm39) missense probably benign 0.00
R5307:Nsun4 UTSW 4 115,891,335 (GRCm39) missense probably damaging 0.98
R5509:Nsun4 UTSW 4 115,908,974 (GRCm39) missense possibly damaging 0.46
R5510:Nsun4 UTSW 4 115,908,974 (GRCm39) missense possibly damaging 0.46
R6145:Nsun4 UTSW 4 115,897,403 (GRCm39) missense probably damaging 1.00
R6520:Nsun4 UTSW 4 115,901,935 (GRCm39) missense probably damaging 1.00
R6848:Nsun4 UTSW 4 115,910,131 (GRCm39) missense possibly damaging 0.90
R7346:Nsun4 UTSW 4 115,909,035 (GRCm39) missense probably benign 0.01
R7528:Nsun4 UTSW 4 115,891,391 (GRCm39) nonsense probably null
R7560:Nsun4 UTSW 4 115,908,691 (GRCm39) missense possibly damaging 0.92
R7719:Nsun4 UTSW 4 115,909,617 (GRCm39) missense possibly damaging 0.82
R7798:Nsun4 UTSW 4 115,908,371 (GRCm39) missense possibly damaging 0.83
R7868:Nsun4 UTSW 4 115,891,329 (GRCm39) missense probably benign
R7932:Nsun4 UTSW 4 115,901,997 (GRCm39) missense probably damaging 1.00
R8074:Nsun4 UTSW 4 115,908,631 (GRCm39) missense possibly damaging 0.92
R8109:Nsun4 UTSW 4 115,909,040 (GRCm39) missense probably benign 0.00
R9006:Nsun4 UTSW 4 115,897,316 (GRCm39) missense probably damaging 1.00
R9260:Nsun4 UTSW 4 115,902,007 (GRCm39) missense probably damaging 1.00
R9383:Nsun4 UTSW 4 115,891,473 (GRCm39) missense probably benign 0.02
R9592:Nsun4 UTSW 4 115,908,852 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- CAGTTTGCAGAAGTACATAGGTCC -3'
(R):5'- ATCCAGCAAGGCTCCTAGAG -3'

Sequencing Primer
(F):5'- CATAGGTCCAAAATTGACCATGAG -3'
(R):5'- AGGAAAGCCTCATCTTCTGC -3'
Posted On 2015-06-20