Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01524:Nhlrc2'

89521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56576155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 304 (I304V)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423]

AlphaFold

Q8BZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000071423
AA Change: I304V

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: I304V

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Abca14	T	C	7: 120,253,421	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,580	Y251H	possibly damaging	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Spats2	C	T	15: 99,212,246	A508V	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Trim17	A	G	11: 58,970,597	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,099,349	N67K	probably benign	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het
Zmat3	G	A	3: 32,341,678	R227C	possibly damaging	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56551799	nonsense	probably null
IGL01570:Nhlrc2	APN	19	56574787	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56570850	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56597361	missense	probably benign	0.10
IGL02303:Nhlrc2	APN	19	56574848	missense	probably damaging	1.00
IGL02349:Nhlrc2	APN	19	56591719	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56570654	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56551870	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56570527	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56597278	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3855:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56576267	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56570466	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56570534	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56570584	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56570859	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56591784	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56592499	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56597378	missense	not run
R7609:Nhlrc2	UTSW	19	56594896	missense	probably benign
R8811:Nhlrc2	UTSW	19	56594912	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56591752	missense	possibly damaging	0.72

Posted On

2013-12-03