Mutagenetix > Incidental Mutation

Incidental Mutation 'R4656:Nhlrc3'

352412

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc3

Ensembl Gene

ENSMUSG00000042997

Gene Name

NHL repeat containing 3

Synonyms

8030451K01Rik

MMRRC Submission

041916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4656 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

53359417-53370679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53370501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 22 (S22P)

Ref Sequence

ENSEMBL: ENSMUSP00000114215 (fasta)

Gene Model

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

AlphaFold

Q8CCH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056749
AA Change: S22P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
AA Change: S22P

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: S22P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997
AA Change: S22P

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

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

0.2659

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (80/83)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,112,534 (GRCm39)		probably benign	Het
4931406B18Rik	T	A	7: 43,150,565 (GRCm39)	H69L	probably benign	Het
Ace2	T	C	X: 162,936,110 (GRCm39)	S84P	probably benign	Het
Adgb	A	C	10: 10,281,050 (GRCm39)	N656K	probably damaging	Het
Ago3	G	T	4: 126,257,545 (GRCm39)	Y495*	probably null	Het
Ahnak	G	A	19: 8,982,219 (GRCm39)	V1168M	possibly damaging	Het
Armc10	A	G	5: 21,866,548 (GRCm39)	R271G	probably benign	Het
Atp4a	T	G	7: 30,419,373 (GRCm39)		probably benign	Het
Casp1	C	T	9: 5,304,324 (GRCm39)	P333S	probably damaging	Het
Ceacam9	C	T	7: 16,457,574 (GRCm39)	A34V	probably benign	Het
Ces1b	C	G	8: 93,784,042 (GRCm39)	E488Q	probably damaging	Het
Ces2h	A	T	8: 105,741,271 (GRCm39)	T88S	possibly damaging	Het
Cfap410	G	A	10: 77,817,450 (GRCm39)	R59H	probably benign	Het
Col2a1	C	T	15: 97,874,057 (GRCm39)	G1375D	unknown	Het
Cyp1a1	T	C	9: 57,609,893 (GRCm39)	F436L	probably damaging	Het
Dcaf7	T	C	11: 105,944,624 (GRCm39)	V269A	probably damaging	Het
Disp2	T	C	2: 118,621,044 (GRCm39)	L592P	probably damaging	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Egln2	A	G	7: 26,858,618 (GRCm39)	V408A	probably benign	Het
Gabpb2	A	G	3: 95,096,252 (GRCm39)	L325P	probably damaging	Het
Gigyf1	C	A	5: 137,523,477 (GRCm39)	Y936*	probably null	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gnl2	C	T	4: 124,934,790 (GRCm39)	Q149*	probably null	Het
Gpr107	C	T	2: 31,104,261 (GRCm39)	T522M	probably damaging	Het
Grpr	T	A	X: 162,297,992 (GRCm39)	S351C	probably damaging	Het
Gsdma	T	C	11: 98,563,907 (GRCm39)	L287P	probably damaging	Het
Herc1	A	G	9: 66,301,993 (GRCm39)	T652A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Irx2	T	C	13: 72,779,417 (GRCm39)	S234P	probably damaging	Het
Itgal	T	A	7: 126,921,725 (GRCm39)	D808E	probably damaging	Het
Krt13	C	A	11: 100,010,189 (GRCm39)	R264L	probably damaging	Het
Marchf1	T	A	8: 66,839,071 (GRCm39)	L38I	probably benign	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Mif4gd	G	T	11: 115,499,163 (GRCm39)		probably benign	Het
Mroh9	A	T	1: 162,893,593 (GRCm39)	M194K	probably damaging	Het
Nipal2	A	T	15: 34,577,714 (GRCm39)		probably null	Het
Nr1h4	A	G	10: 89,334,115 (GRCm39)	S78P	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Olfr908	A	T	9: 38,427,852 (GRCm39)	N175Y	probably damaging	Het
Or1e30	A	T	11: 73,678,337 (GRCm39)	D191V	probably damaging	Het
Or52d13	C	T	7: 103,109,695 (GRCm39)	R235Q	probably benign	Het
Pdzd2	A	G	15: 12,385,797 (GRCm39)	V991A	probably benign	Het
Pex1	G	A	5: 3,654,880 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,611,598 (GRCm39)	A859E	probably damaging	Het
Pramel32	T	C	4: 88,548,202 (GRCm39)	T68A	probably benign	Het
Ranbp2	A	G	10: 58,289,244 (GRCm39)	K84R	possibly damaging	Het
Rbm14	T	C	19: 4,861,463 (GRCm39)	Y25C	probably damaging	Het
Rmi2	A	G	16: 10,653,186 (GRCm39)	D78G	probably damaging	Het
Serpina3k	C	A	12: 104,311,532 (GRCm39)	T370K	probably damaging	Het
Shc2	A	T	10: 79,457,003 (GRCm39)	L538M	probably damaging	Het
Skint1	A	G	4: 111,878,674 (GRCm39)	K202R	probably damaging	Het
Slc22a29	C	A	19: 8,195,664 (GRCm39)	S125I	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,970 (GRCm39)	D297E	probably benign	Het
Slco6d1	T	C	1: 98,350,928 (GRCm39)	F136S	probably benign	Het
Smg1	A	T	7: 117,812,174 (GRCm39)	V39E	probably benign	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Spsb1	A	G	4: 149,990,867 (GRCm39)		probably null	Het
Sspo	T	G	6: 48,431,010 (GRCm39)	I631S	possibly damaging	Het
Syne2	T	C	12: 76,078,147 (GRCm39)	L4694P	probably damaging	Het
Taf5l	T	C	8: 124,724,844 (GRCm39)	E325G	probably benign	Het
Tars1	A	T	15: 11,394,350 (GRCm39)	S96T	probably damaging	Het
Tdrd12	T	C	7: 35,184,679 (GRCm39)	K745E	probably damaging	Het
Tenm3	A	G	8: 48,746,761 (GRCm39)	Y1015H	probably damaging	Het
Trpv3	T	A	11: 73,186,240 (GRCm39)	M677K	probably damaging	Het
Txlnb	A	T	10: 17,691,024 (GRCm39)	K191N	probably damaging	Het
Ubr1	A	G	2: 120,756,494 (GRCm39)	V711A	probably benign	Het
Uqcrb	T	C	13: 67,049,603 (GRCm39)	T41A	probably benign	Het
Usp6nl	A	G	2: 6,445,973 (GRCm39)	Y627C	probably damaging	Het
Vezf1	A	G	11: 87,965,493 (GRCm39)	D245G	probably damaging	Het
Vmn2r66	A	G	7: 84,661,204 (GRCm39)	W9R	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfy1	T	G	Y: 729,626 (GRCm39)	T339P	unknown	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
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
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'- TGACTTAAGAGTGTAGTAAGAGCTG -3'
(R):5'- ACACCCGGAATTAGTCTTCGG -3'

Sequencing Primer
(F):5'- TGAGTCCTCTGAAAAAGCTGCTC -3'
(R):5'- GAATTAGTCTTCGGCGGTTCTCC -3'

Posted On

2015-10-08