Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Nhlrc3'

533742

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc3

Ensembl Gene

ENSMUSG00000042997

Gene Name

NHL repeat containing 3

Synonyms

8030451K01Rik

MMRRC Submission

044923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53359417-53370679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53360996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 253 (N253S)

Ref Sequence

ENSEMBL: ENSMUSP00000055295 (fasta)

Gene Model

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

AlphaFold

Q8CCH2

Predicted Effect

probably benign
Transcript: ENSMUST00000056749
AA Change: N253S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
AA Change: N253S

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: ENSMUST00000130348

SMART Domains

Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997

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

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	T	8: 95,660,570 (GRCm39)	T70S	probably damaging	Het
Adora1	T	C	1: 134,161,777 (GRCm39)	Y106C	probably damaging	Het
Aox3	T	A	1: 58,180,590 (GRCm39)	N250K	probably benign	Het
Ap2b1	A	T	11: 83,226,317 (GRCm39)	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,919,215 (GRCm39)	S2015N	possibly damaging	Het
C7	A	G	15: 5,037,136 (GRCm39)	F581L	probably damaging	Het
Cd27	A	T	6: 125,210,627 (GRCm39)	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,535,456 (GRCm39)	V274A	probably benign	Het
Cenpe	A	G	3: 134,949,583 (GRCm39)	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523 (GRCm39)	L1353P	probably damaging	Het
Dcc	C	T	18: 71,503,764 (GRCm39)	V945M	probably damaging	Het
Dio1	A	G	4: 107,154,922 (GRCm39)	V118A	probably damaging	Het
Dst	C	T	1: 34,251,379 (GRCm39)	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,971,672 (GRCm39)	M165K	probably benign	Het
Eif5b	A	G	1: 38,085,741 (GRCm39)	I929V	probably benign	Het
F5	T	A	1: 164,014,471 (GRCm39)	S581T	probably damaging	Het
Fanca	A	C	8: 124,013,216 (GRCm39)	I761S	probably damaging	Het
Fat2	T	C	11: 55,173,067 (GRCm39)	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,299,929 (GRCm39)	L281P	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm5431	T	C	11: 48,779,803 (GRCm39)	D651G	probably damaging	Het
Hook3	A	C	8: 26,522,450 (GRCm39)		probably null	Het
Ivd	G	T	2: 118,700,242 (GRCm39)	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,272,559 (GRCm39)	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,070,626 (GRCm39)	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,622,476 (GRCm39)	I45F	probably damaging	Het
Nell2	T	C	15: 95,139,468 (GRCm39)	D588G	probably damaging	Het
Nlrp4c	T	A	7: 6,069,754 (GRCm39)	F552I	probably damaging	Het
Or51g1	A	C	7: 102,634,042 (GRCm39)	S110A	probably damaging	Het
Or5j3	G	A	2: 86,128,267 (GRCm39)	A36T	probably benign	Het
Pcdhga12	T	C	18: 37,900,232 (GRCm39)	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,848,926 (GRCm39)	Y311F	probably benign	Het
Phldb2	A	G	16: 45,569,088 (GRCm39)		probably null	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Plxna4	A	G	6: 32,287,457 (GRCm39)	V480A	probably benign	Het
Psrc1	A	T	3: 108,292,664 (GRCm39)	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,862,516 (GRCm39)	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,642,760 (GRCm39)		probably null	Het
Semp2l2b	C	T	10: 21,942,616 (GRCm39)	G455R	probably damaging	Het
Skint6	T	C	4: 112,805,577 (GRCm39)		probably null	Het
Slc24a1	A	G	9: 64,855,605 (GRCm39)	V434A	probably benign	Het
Snd1	T	A	6: 28,668,609 (GRCm39)	V432E	probably benign	Het
Syne2	C	T	12: 75,989,659 (GRCm39)	T1847M	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tes	C	A	6: 17,104,651 (GRCm39)	N377K	probably benign	Het
Tfip11	T	A	5: 112,481,463 (GRCm39)	I452N	probably benign	Het
Tgfbi	T	C	13: 56,785,016 (GRCm39)	S658P	probably benign	Het
Tmx4	A	C	2: 134,462,594 (GRCm39)	D112E	probably damaging	Het
Tnn	G	T	1: 159,932,412 (GRCm39)	D1367E	probably damaging	Het
Triobp	A	G	15: 78,850,815 (GRCm39)	N323S	possibly damaging	Het
Usp40	T	C	1: 87,908,755 (GRCm39)	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,600,296 (GRCm39)	K440R	probably benign	Het
Zfp707	T	A	15: 75,846,748 (GRCm39)	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,689,844 (GRCm39)	Y472C	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
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
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'- GCTGAGATCCTCCTATGATTAGG -3'
(R):5'- AGACCGTGTATGTGCAGCTG -3'

Sequencing Primer
(F):5'- TCTCTCAAAGGATTCGGAACTCTCAG -3'
(R):5'- TGTGCAGCTGATAAGACTACTCG -3'

Posted On

2018-09-12