Incidental Mutation 'R6848:Nsun4'
ID 534849
Institutional Source Beutler Lab
Gene Symbol Nsun4
Ensembl Gene ENSMUSG00000028706
Gene Name NOL1/NOP2/Sun domain family, member 4
Synonyms 2810405F18Rik, 2310010O12Rik
MMRRC Submission 045022-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R6848 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 115890202-115911076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115910131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 143 (D143G)
Ref Sequence ENSEMBL: ENSMUSP00000130430 (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 benign
Transcript: ENSMUST00000030475
SMART Domains Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Nol1_Nop2_Fmu 163 356 9.7e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165493
AA Change: D143G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706
AA Change: D143G

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 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,775,487 (GRCm39) N290S probably damaging Het
Acox3 G T 5: 35,749,528 (GRCm39) G218C probably damaging Het
Acsf3 G A 8: 123,517,329 (GRCm39) G375D probably damaging Het
Adamts9 G T 6: 92,840,335 (GRCm39) N568K possibly damaging Het
Akr1cl G A 1: 65,063,928 (GRCm39) T87I probably damaging Het
Brcc3dc A T 10: 108,535,451 (GRCm39) V168E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Casp16 A T 17: 23,770,053 (GRCm39) C175* probably null Het
Cast T C 13: 74,844,052 (GRCm39) K694R possibly damaging Het
Cep70 G A 9: 99,144,954 (GRCm39) R100H probably benign Het
Cep72 C T 13: 74,186,395 (GRCm39) A259T possibly damaging Het
Chsy1 T A 7: 65,820,785 (GRCm39) M340K probably damaging Het
Col27a1 T C 4: 63,220,608 (GRCm39) S182P probably benign Het
Crlf2 A C 5: 109,704,897 (GRCm39) F103V possibly damaging Het
Dync2h1 T C 9: 7,159,632 (GRCm39) N652S probably benign Het
Ephx4 G A 5: 107,574,784 (GRCm39) G274D probably damaging Het
Fer T A 17: 64,298,601 (GRCm39) F517I probably damaging Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gata3 T A 2: 9,863,339 (GRCm39) N392Y possibly damaging Het
Gria4 C T 9: 4,793,822 (GRCm39) V79M probably damaging Het
Grk3 A C 5: 113,133,641 (GRCm39) N60K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf1r T G 7: 67,653,927 (GRCm39) I155R probably damaging Het
Igsf9 T C 1: 172,323,329 (GRCm39) L681P probably damaging Het
Intu T C 3: 40,648,685 (GRCm39) M789T probably benign Het
Kit A T 5: 75,767,872 (GRCm39) Q85L probably benign Het
Klhdc2 T A 12: 69,355,750 (GRCm39) C325* probably null Het
Mcidas A G 13: 113,130,419 (GRCm39) E5G probably benign Het
Mcm5 G T 8: 75,853,918 (GRCm39) R724L possibly damaging Het
Nrbp2 G A 15: 75,963,332 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,084 (GRCm39) I655T probably damaging Het
Opn3 C T 1: 175,490,615 (GRCm39) V349M probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or5d47 A T 2: 87,804,514 (GRCm39) V165E possibly damaging Het
Or6d14 T C 6: 116,533,736 (GRCm39) S117P probably damaging Het
Pank2 C A 2: 131,124,546 (GRCm39) L297I probably damaging Het
Pcdh20 T A 14: 88,704,690 (GRCm39) E870V probably benign Het
Pdcd6 T A 13: 74,457,959 (GRCm39) M71L possibly damaging Het
Phkb A T 8: 86,756,246 (GRCm39) I847F probably damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Pwp2 C G 10: 78,020,127 (GRCm39) probably null Het
Rbms3 A G 9: 117,080,809 (GRCm39) Y21H probably damaging Het
Rhbdl1 T A 17: 26,055,158 (GRCm39) K17* probably null Het
Rp1l1 C A 14: 64,265,667 (GRCm39) Q418K possibly damaging Het
Scpppq1 A G 5: 104,222,603 (GRCm39) probably benign Het
Slc22a4 A T 11: 53,898,615 (GRCm39) V159E possibly damaging Het
Spata31d1a T C 13: 59,849,777 (GRCm39) T784A possibly damaging Het
Tll1 A G 8: 64,551,544 (GRCm39) M279T probably damaging Het
Tmem163 A T 1: 127,479,117 (GRCm39) V134D probably damaging Het
Top2b A G 14: 16,409,958 (GRCm38) N875S possibly damaging Het
Tpd52l1 T C 10: 31,208,853 (GRCm39) E205G probably benign Het
Tpsb2 T A 17: 25,586,802 (GRCm39) Y271* probably null Het
Ugt3a1 G A 15: 9,280,138 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,801,840 (GRCm39) M154V probably benign Het
Zfp740 T G 15: 102,117,243 (GRCm39) I89S probably benign 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
R4277:Nsun4 UTSW 4 115,891,479 (GRCm39) missense probably damaging 1.00
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
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'- TTCAGGGGAAGTTACTGGGC -3'
(R):5'- TCCAAATGCAGGCAACAGATTC -3'

Sequencing Primer
(F):5'- AAGTTACTGGGCTGGCTCTAG -3'
(R):5'- TGCAGGCAACAGATTCACCAAC -3'
Posted On 2018-09-12