Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Nhlrc3'

76712

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc3

Ensembl Gene

ENSMUSG00000042997

Gene Name

NHL repeat containing 3

Synonyms

MMRRC Submission

038963-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53448583-53463332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53462449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 34 (S34T)

Ref Sequence

ENSEMBL: ENSMUSP00000114215 (fasta)

Gene Model

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

AlphaFold

Q8CCH2

Predicted Effect

probably benign
Transcript: ENSMUST00000056749
AA Change: S34T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
AA Change: S34T

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 benign
Transcript: ENSMUST00000130348
AA Change: S34T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997
AA Change: S34T

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,595,238		probably null	Het
Acsm2	G	A	7: 119,573,117	G61D	probably damaging	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Bbs9	T	C	9: 22,567,714	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,744,636	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,419,837		probably benign	Het
Eif3i	A	C	4: 129,592,076	F319V	possibly damaging	Het
Eprs	T	C	1: 185,398,458	L672P	probably damaging	Het
Fras1	C	T	5: 96,768,430	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,407,161	M79K	probably damaging	Het
Grrp1	G	A	4: 134,252,057	R37C	probably damaging	Het
Hdac1	T	C	4: 129,518,109	N331S	probably benign	Het
Hmcn1	C	T	1: 150,650,073	G3300S	probably damaging	Het
Iars2	T	C	1: 185,320,874	E400G	probably damaging	Het
Irx2	T	C	13: 72,632,650		probably null	Het
Itih4	G	A	14: 30,895,423	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,156,253		probably benign	Het
Klk8	G	A	7: 43,802,197	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,429,984	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,665,745	V87A	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Olfr1099	A	G	2: 86,958,562	C299R	probably benign	Het
Olfr1224-ps1	A	T	2: 89,156,891	C95S	probably benign	Het
Olfr1494	T	C	19: 13,749,676	L190P	probably damaging	Het
Olfr193	A	T	16: 59,110,169	L147*	probably null	Het
Olfr549	A	G	7: 102,554,439	I52V	probably benign	Het
Olfr593	T	C	7: 103,212,670	F259S	probably damaging	Het
Pcnx4	T	C	12: 72,575,478	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,450,117	T310A	probably benign	Het
Pfas	A	G	11: 69,000,521	L250P	probably damaging	Het
Plk5	T	A	10: 80,361,130	D352E	probably benign	Het
Ryr3	A	G	2: 112,756,327		probably benign	Het
Serinc3	A	G	2: 163,637,003	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,967,145	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,667,606	Q487*	probably null	Het
Tnf	A	G	17: 35,201,674	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,739,977	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,743,530	T23927I	probably damaging	Het
Urb1	G	A	16: 90,810,297	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,890,272	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,182	V806A	probably damaging	Het

Other mutations in Nhlrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Nhlrc3	APN	3	53453537	splice site	probably benign
IGL03113:Nhlrc3	APN	3	53458563	missense	possibly damaging	0.86
PIT1430001:Nhlrc3	UTSW	3	53453629	missense	probably damaging	1.00
R0486:Nhlrc3	UTSW	3	53452437	missense	probably damaging	1.00
R0617:Nhlrc3	UTSW	3	53458623	missense	probably damaging	1.00
R1423:Nhlrc3	UTSW	3	53462415	missense	probably damaging	1.00
R1606:Nhlrc3	UTSW	3	53458657	nonsense	probably null
R2105:Nhlrc3	UTSW	3	53453651	missense	probably damaging	1.00
R2214:Nhlrc3	UTSW	3	53456454	missense	probably damaging	1.00
R3802:Nhlrc3	UTSW	3	53458631	missense	possibly damaging	0.68
R3804:Nhlrc3	UTSW	3	53458631	missense	possibly damaging	0.68
R4656:Nhlrc3	UTSW	3	53463080	missense	probably damaging	0.99
R4780:Nhlrc3	UTSW	3	53458567	missense	probably benign	0.23
R5608:Nhlrc3	UTSW	3	53462311	critical splice donor site	probably null
R6298:Nhlrc3	UTSW	3	53452523	missense	possibly damaging	0.74
R6810:Nhlrc3	UTSW	3	53453575	missense	probably benign	0.02
R7899:Nhlrc3	UTSW	3	53461659	missense	probably benign	0.01
R7975:Nhlrc3	UTSW	3	53453545	missense	probably damaging	1.00
R9028:Nhlrc3	UTSW	3	53453571	nonsense	probably null
R9375:Nhlrc3	UTSW	3	53461769	missense	possibly damaging	0.56
R9385:Nhlrc3	UTSW	3	53453594	missense	probably damaging	0.98

Predicted Primers

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

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

Posted On

2013-10-16