Incidental Mutation 'R9375:Nhlrc3'
ID 709530
Institutional Source Beutler Lab
Gene Symbol Nhlrc3
Ensembl Gene ENSMUSG00000042997
Gene Name NHL repeat containing 3
Synonyms 8030451K01Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9375 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 53359417-53370679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53369190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 83 (N83S)
Ref Sequence ENSEMBL: ENSMUSP00000055295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056749] [ENSMUST00000058577] [ENSMUST00000130348]
AlphaFold Q8CCH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000056749
AA Change: N83S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
AA Change: N83S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:NHL 213 240 1.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058577
SMART Domains Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504

DomainStartEndE-ValueType
Pfam:DUF4476 1 63 5e-12 PFAM
Pfam:DUF4476 30 121 4e-27 PFAM
low complexity region 227 246 N/A INTRINSIC
low complexity region 276 297 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 321 331 N/A INTRINSIC
low complexity region 335 357 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
low complexity region 696 718 N/A INTRINSIC
low complexity region 781 804 N/A INTRINSIC
low complexity region 806 817 N/A INTRINSIC
low complexity region 820 834 N/A INTRINSIC
low complexity region 854 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130348
SMART Domains Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,332,567 (GRCm39) D549G probably benign Het
Aamdc A G 7: 97,199,902 (GRCm39) V120A probably benign Het
Acp2 A T 2: 91,037,174 (GRCm39) Q251L probably benign Het
AI597479 C T 1: 43,150,505 (GRCm39) A205V possibly damaging Het
Apob A G 12: 8,029,261 (GRCm39) T44A possibly damaging Het
Arhgap18 G A 10: 26,648,610 (GRCm39) V11M probably damaging Het
Arhgef10l T G 4: 140,319,265 (GRCm39) H156P probably benign Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Ccn2 A T 10: 24,473,501 (GRCm39) M347L possibly damaging Het
Chd9 G A 8: 91,725,335 (GRCm39) probably null Het
Clec4n T A 6: 123,207,662 (GRCm39) F42L probably benign Het
Cngb1 T C 8: 96,026,350 (GRCm39) K144E unknown Het
Cyp4f17 A G 17: 32,747,746 (GRCm39) T485A probably damaging Het
Dcaf6 T A 1: 165,185,052 (GRCm39) Y480F probably damaging Het
Defa30 C T 8: 21,624,686 (GRCm39) T3I probably damaging Het
Dmxl1 T A 18: 50,091,477 (GRCm39) W2854R probably damaging Het
Dnah11 G A 12: 117,884,703 (GRCm39) T3783I possibly damaging Het
Dync1i1 T A 6: 5,913,443 (GRCm39) F225L possibly damaging Het
Elp6 T A 9: 110,144,852 (GRCm39) Y119* probably null Het
Enpep A T 3: 129,125,529 (GRCm39) M201K probably benign Het
Fam161a A T 11: 22,970,661 (GRCm39) R280W probably damaging Het
Fam98a T C 17: 75,848,330 (GRCm39) N128S possibly damaging Het
Fpgt A T 3: 154,792,934 (GRCm39) D364E probably benign Het
G3bp1 T A 11: 55,390,439 (GRCm39) M448K probably damaging Het
Gadd45b T C 10: 80,766,284 (GRCm39) M16T probably benign Het
Gdi2 A T 13: 3,614,869 (GRCm39) I383F probably benign Het
H2-T13 T C 17: 36,391,993 (GRCm39) T27A possibly damaging Het
Igtp T G 11: 58,097,026 (GRCm39) L66V probably damaging Het
Kcne4 G A 1: 78,795,623 (GRCm39) M90I probably benign Het
Lmo7 T A 14: 102,136,123 (GRCm39) M732K probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mast4 T G 13: 102,917,753 (GRCm39) S552R probably damaging Het
Meak7 G A 8: 120,498,096 (GRCm39) A136V probably benign Het
Mff A T 1: 82,707,007 (GRCm39) M11L probably benign Het
Mterf2 T C 10: 84,956,327 (GRCm39) E99G probably damaging Het
Myef2l T C 3: 10,153,791 (GRCm39) S187P probably benign Het
Myom2 T A 8: 15,149,210 (GRCm39) N560K probably damaging Het
Nab2 A G 10: 127,500,580 (GRCm39) S171P probably damaging Het
Nod2 A T 8: 89,391,033 (GRCm39) I447F probably damaging Het
Npat T A 9: 53,474,456 (GRCm39) D749E possibly damaging Het
Nxph4 A G 10: 127,362,631 (GRCm39) S87P probably benign Het
Or2y1f T A 11: 49,184,902 (GRCm39) Y251* probably null Het
Or51i2 G T 7: 103,689,273 (GRCm39) R90L possibly damaging Het
Or5d47 G A 2: 87,804,526 (GRCm39) T161M possibly damaging Het
Or6c6 T A 10: 129,186,989 (GRCm39) S186T probably damaging Het
Or9q2 T A 19: 13,772,214 (GRCm39) T254S probably damaging Het
Pcdha3 G A 18: 37,079,353 (GRCm39) V32I probably benign Het
Pcdhgc3 A T 18: 37,939,691 (GRCm39) T31S probably benign Het
Phldb3 A G 7: 24,323,297 (GRCm39) R391G probably damaging Het
Piezo1 A G 8: 123,228,604 (GRCm39) V257A Het
Pip5k1b T A 19: 24,416,442 (GRCm39) Q15L probably benign Het
Plxnc1 T C 10: 94,649,093 (GRCm39) N1229D probably benign Het
Ptpn12 A G 5: 21,224,212 (GRCm39) V127A probably benign Het
Ptprr T A 10: 116,109,724 (GRCm39) V655D probably benign Het
Rbbp8 A G 18: 11,838,888 (GRCm39) T190A probably benign Het
Rnf17 T A 14: 56,719,579 (GRCm39) V943E probably damaging Het
Rnpc3 C T 3: 113,404,913 (GRCm39) G414D probably damaging Het
Robo4 T A 9: 37,316,158 (GRCm39) N387K probably damaging Het
Sall4 G A 2: 168,597,781 (GRCm39) T353M probably damaging Het
Serpinb13 T C 1: 106,909,997 (GRCm39) I38T probably damaging Het
Sgsm1 A T 5: 113,422,139 (GRCm39) I218N unknown Het
Sntg2 T A 12: 30,293,343 (GRCm39) probably null Het
Taf1c G A 8: 120,325,393 (GRCm39) S823F probably damaging Het
Timd6 T A 11: 46,468,246 (GRCm39) C107S probably damaging Het
Trhde T G 10: 114,244,598 (GRCm39) I963L probably damaging Het
Trim43b T C 9: 88,967,619 (GRCm39) Y339C probably damaging Het
Trp53 T A 11: 69,480,537 (GRCm39) probably null Het
Tubg2 T C 11: 101,051,621 (GRCm39) V282A probably benign Het
Ube2g1 C T 11: 72,553,943 (GRCm39) probably benign Het
Usp34 C A 11: 23,437,203 (GRCm39) A3341E Het
Vmn2r12 T A 5: 109,233,986 (GRCm39) H742L probably damaging Het
Vmn2r24 T C 6: 123,792,542 (GRCm39) V623A probably damaging Het
Vmn2r5 A T 3: 64,411,316 (GRCm39) D417E probably damaging Het
Vmn2r-ps158 C T 7: 42,673,499 (GRCm39) P193S possibly damaging Het
Xirp2 A T 2: 67,342,118 (GRCm39) D1453V probably damaging Het
Zfp2 T C 11: 50,791,042 (GRCm39) S334G probably damaging Het
Other mutations in Nhlrc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Nhlrc3 APN 3 53,360,958 (GRCm39) splice site probably benign
IGL03113:Nhlrc3 APN 3 53,365,984 (GRCm39) missense possibly damaging 0.86
PIT1430001:Nhlrc3 UTSW 3 53,361,050 (GRCm39) missense probably damaging 1.00
R0486:Nhlrc3 UTSW 3 53,359,858 (GRCm39) missense probably damaging 1.00
R0617:Nhlrc3 UTSW 3 53,366,044 (GRCm39) missense probably damaging 1.00
R0783:Nhlrc3 UTSW 3 53,369,870 (GRCm39) missense probably benign 0.04
R1423:Nhlrc3 UTSW 3 53,369,836 (GRCm39) missense probably damaging 1.00
R1606:Nhlrc3 UTSW 3 53,366,078 (GRCm39) nonsense probably null
R2105:Nhlrc3 UTSW 3 53,361,072 (GRCm39) missense probably damaging 1.00
R2214:Nhlrc3 UTSW 3 53,363,875 (GRCm39) missense probably damaging 1.00
R3802:Nhlrc3 UTSW 3 53,366,052 (GRCm39) missense possibly damaging 0.68
R3804:Nhlrc3 UTSW 3 53,366,052 (GRCm39) missense possibly damaging 0.68
R4656:Nhlrc3 UTSW 3 53,370,501 (GRCm39) missense probably damaging 0.99
R4780:Nhlrc3 UTSW 3 53,365,988 (GRCm39) missense probably benign 0.23
R5608:Nhlrc3 UTSW 3 53,369,732 (GRCm39) critical splice donor site probably null
R6298:Nhlrc3 UTSW 3 53,359,944 (GRCm39) missense possibly damaging 0.74
R6810:Nhlrc3 UTSW 3 53,360,996 (GRCm39) missense probably benign 0.02
R7899:Nhlrc3 UTSW 3 53,369,080 (GRCm39) missense probably benign 0.01
R7975:Nhlrc3 UTSW 3 53,360,966 (GRCm39) missense probably damaging 1.00
R9028:Nhlrc3 UTSW 3 53,360,992 (GRCm39) nonsense probably null
R9385:Nhlrc3 UTSW 3 53,361,015 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCAGCAATGCTAGCCTTAAAGTG -3'
(R):5'- GTTGGCTTCAAGTGCACATTTTAG -3'

Sequencing Primer
(F):5'- CATGGGCAAAGATGTGACTCTATC -3'
(R):5'- GGCTTCAAGTGCACATTTTAGATTTG -3'
Posted On 2022-04-18