Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01653:Nhlrc2'

102887

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 #

IGL01653

Quality Score

Status

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56570850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 256 (R256C)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

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

AlphaFold

Q8BZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000071423
AA Change: R256C

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: R256C

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,446,974	D119G	probably damaging	Het
5430403G16Rik	A	C	5: 109,677,316	Y89*	probably null	Het
Apol7c	A	G	15: 77,526,300	C149R	probably damaging	Het
Arfgef1	G	A	1: 10,159,908	R1235*	probably null	Het
Bpifb4	A	G	2: 153,944,783	D285G	probably damaging	Het
Cep192	T	A	18: 67,852,972	H1682Q	possibly damaging	Het
Cerk	G	T	15: 86,149,351	Y290*	probably null	Het
Cyld	A	T	8: 88,741,370	I544F	probably damaging	Het
Dcp1a	T	C	14: 30,505,571	S134P	possibly damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ephb4	A	G	5: 137,365,741		probably benign	Het
Fcgr3	A	T	1: 171,059,280	L25Q	probably damaging	Het
Heatr3	A	G	8: 88,144,617	I83V	probably benign	Het
Hormad1	T	A	3: 95,578,297	N265K	possibly damaging	Het
Kpna1	A	G	16: 36,020,192	T201A	probably benign	Het
Krt6b	T	A	15: 101,679,114	T182S	probably damaging	Het
Macc1	A	G	12: 119,450,353	K755E	probably damaging	Het
Med12l	C	T	3: 59,261,893	T1568M	probably damaging	Het
Muc4	G	T	16: 32,761,348		probably null	Het
Myt1l	T	C	12: 29,910,771	S1028P	unknown	Het
Olfr1230	T	A	2: 89,297,127	T48S	probably benign	Het
Olfr1441	G	A	19: 12,422,372	R21H	probably benign	Het
Pfkfb4	G	A	9: 108,999,134	R79H	probably damaging	Het
Piezo2	T	C	18: 63,182,833		probably benign	Het
Pramel5	C	T	4: 144,273,859	R49H	probably benign	Het
Ralgapb	T	A	2: 158,462,159	S613T	possibly damaging	Het
Ryr1	T	C	7: 29,078,597	E2158G	probably damaging	Het
Scgb2b19	T	A	7: 33,279,728	Y43F	probably damaging	Het
Slc17a6	A	G	7: 51,668,022	T468A	possibly damaging	Het
Slc36a1	A	G	11: 55,228,321	D374G	possibly damaging	Het
Wdtc1	T	C	4: 133,295,232	D601G	probably damaging	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56551799	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56576155	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56574787	missense	possibly damaging	0.87
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

2014-01-21