Mutagenetix > Incidental Mutation

Incidental Mutation 'R1423:Nhlrc3'

161161

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc3

Ensembl Gene

ENSMUSG00000042997

Gene Name

NHL repeat containing 3

Synonyms

8030451K01Rik

MMRRC Submission

039479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53359417-53370679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53369836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 45 (L45H)

Ref Sequence

ENSEMBL: ENSMUSP00000114215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056749] [ENSMUST00000058577] [ENSMUST00000130348]

AlphaFold

Q8CCH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000056749
AA Change: L45H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
AA Change: L45H

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000129497

Predicted Effect

probably damaging
Transcript: ENSMUST00000130348
AA Change: L45H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997
AA Change: L45H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198983

Meta Mutation Damage Score

0.2466

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13d	A	G	19: 4,331,097 (GRCm39)	S64P	probably damaging	Het
Armh4	T	C	14: 49,988,896 (GRCm39)	E691G	probably damaging	Het
Bag4	T	C	8: 26,258,302 (GRCm39)	S342G	probably damaging	Het
Bbs1	G	A	19: 4,944,291 (GRCm39)	T446I	probably benign	Het
Bmyc	A	G	2: 25,597,236 (GRCm39)	D100G	probably damaging	Het
Btbd7	T	C	12: 102,751,734 (GRCm39)	D1010G	possibly damaging	Het
Celsr3	A	T	9: 108,704,104 (GRCm39)	T196S	probably benign	Het
Crtam	C	A	9: 40,884,918 (GRCm39)	R161L	probably benign	Het
Cyp11b2	C	A	15: 74,724,979 (GRCm39)	G290V	probably damaging	Het
Edc4	C	T	8: 106,617,843 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,370,494 (GRCm39)		probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fbxo16	T	C	14: 65,524,623 (GRCm39)		probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Gabrb2	A	G	11: 42,420,298 (GRCm39)	N173S	probably damaging	Het
Gm13741	A	T	2: 87,486,674 (GRCm39)	I197K	possibly damaging	Het
Helb	T	A	10: 119,944,871 (GRCm39)	I222F	probably damaging	Het
Hesx1	A	T	14: 26,723,876 (GRCm39)	Q153L	probably null	Het
Isca1	T	C	13: 59,910,593 (GRCm39)	N33S	probably benign	Het
Itsn2	T	C	12: 4,723,572 (GRCm39)	V1142A	probably damaging	Het
Lama5	T	G	2: 179,837,434 (GRCm39)	T984P	probably damaging	Het
Lima1	T	A	15: 99,717,626 (GRCm39)	K127*	probably null	Het
Lmbrd1	T	A	1: 24,785,959 (GRCm39)	V418D	probably damaging	Het
Mertk	T	C	2: 128,620,883 (GRCm39)	V575A	probably damaging	Het
Mrps28	T	C	3: 8,965,184 (GRCm39)	H85R	probably benign	Het
Mrtfb	T	C	16: 13,230,105 (GRCm39)	V930A	possibly damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	TCCC	TCC	13: 100,291,355 (GRCm39)		probably benign	Het
Naip2	G	A	13: 100,291,380 (GRCm39)	S1186F	possibly damaging	Het
Or52e5	T	G	7: 104,719,226 (GRCm39)	M184R	probably damaging	Het
Or52u1	C	T	7: 104,237,682 (GRCm39)	R224*	probably null	Het
Or8s16	T	C	15: 98,211,324 (GRCm39)	T36A	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdhb15	A	T	18: 37,606,975 (GRCm39)	D69V	probably damaging	Het
Pitpnm1	G	A	19: 4,162,392 (GRCm39)	R1074H	probably damaging	Het
Plb1	A	G	5: 32,450,601 (GRCm39)	N381D	probably benign	Het
Poc1b	T	C	10: 98,988,725 (GRCm39)	S247P	probably damaging	Het
Prl7b1	T	A	13: 27,786,110 (GRCm39)	N186I	probably damaging	Het
Riok1	T	C	13: 38,233,090 (GRCm39)	M241T	probably damaging	Het
Tigit	T	C	16: 43,469,395 (GRCm39)	E232G	probably benign	Het
Tpst2	T	A	5: 112,455,488 (GRCm39)	L9Q	probably benign	Het
Ttbk1	T	C	17: 46,757,080 (GRCm39)		probably benign	Het
Vmn1r3	A	T	4: 3,185,231 (GRCm39)	N25K	probably damaging	Het
Vmn2r121	T	A	X: 123,039,602 (GRCm39)	H522L	possibly damaging	Het
Vmn2r15	T	C	5: 109,441,093 (GRCm39)	Y255C	probably damaging	Het

Other mutations in Nhlrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9375:Nhlrc3	UTSW	3	53,369,190 (GRCm39)	missense	possibly damaging	0.56
R9385:Nhlrc3	UTSW	3	53,361,015 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATAACCGCATTAACACTCTGGTCTCTC -3'
(R):5'- GCTGACGACTCGTCCTCTCATTTAG -3'

Sequencing Primer
(F):5'- cttgacctcacaggctcac -3'
(R):5'- gctcactctctcactgtaactc -3'

Posted On

2014-03-14