Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02501:Nhlrc2'

296062

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 #

IGL02501

Quality Score

Status

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56570654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 190 (Y190*)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

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

AlphaFold

Q8BZW8

Predicted Effect

probably null
Transcript: ENSMUST00000071423
AA Change: Y190*

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: Y190*

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	A	T	3: 37,083,340	I307F	probably damaging	Het
Adam15	G	A	3: 89,340,462	A789V	possibly damaging	Het
Bspry	A	G	4: 62,496,435	T422A	probably benign	Het
Btnl6	T	A	17: 34,515,674	D38V	possibly damaging	Het
Cd59b	G	A	2: 104,078,928	C18Y	probably damaging	Het
Clstn1	T	G	4: 149,631,842	I255R	probably damaging	Het
Dpp10	A	G	1: 123,686,270	L99P	possibly damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Emc1	A	T	4: 139,370,984	T759S	probably benign	Het
Fam126b	C	A	1: 58,540,191	R229L	probably damaging	Het
Fndc1	C	T	17: 7,765,398	G1232E	unknown	Het
Gjb3	C	T	4: 127,326,364	G125D	probably damaging	Het
Helb	A	G	10: 120,102,788	S594P	possibly damaging	Het
Ildr1	T	C	16: 36,722,350	S371P	probably damaging	Het
Kif1b	T	A	4: 149,214,976	R946W	probably damaging	Het
Lrp12	T	C	15: 39,877,904	T472A	probably damaging	Het
Lyst	A	G	13: 13,711,645	D3031G	probably benign	Het
Med12l	A	T	3: 59,261,976	T1596S	possibly damaging	Het
Myom1	A	C	17: 71,072,081		probably null	Het
Nol4	A	T	18: 22,823,341	N115K	probably damaging	Het
Nrg1	T	A	8: 31,818,263		probably null	Het
Olfr844	T	A	9: 19,318,703	H56Q	probably damaging	Het
Oxld1	A	C	11: 120,456,888	L161R	probably damaging	Het
Phex	A	G	X: 157,186,275	S568P	probably damaging	Het
Pkd1	T	G	17: 24,569,699	S810R	probably benign	Het
Plin2	G	T	4: 86,664,486	C84*	probably null	Het
Ppfia3	A	T	7: 45,354,938		probably benign	Het
Ptpn14	A	G	1: 189,850,390	N478S	probably benign	Het
Pygl	A	G	12: 70,191,134	M801T	probably benign	Het
Recql5	A	G	11: 115,895,091	Y619H	probably benign	Het
Scn3a	C	A	2: 65,526,555	D182Y	possibly damaging	Het
Serpinb6e	T	C	13: 33,832,802	E316G	possibly damaging	Het
Shroom4	A	G	X: 6,583,944	E386G	possibly damaging	Het
Slc4a2	A	G	5: 24,429,434	S24G	probably benign	Het
Slc4a4	A	G	5: 89,129,649	I282V	probably benign	Het
Slc8b1	C	T	5: 120,520,853	R148C	probably damaging	Het
Stag2	A	G	X: 42,271,325		probably benign	Het
Styx	T	A	14: 45,372,465	H195Q	probably benign	Het
Sufu	A	G	19: 46,450,910	I190V	probably benign	Het
Svep1	A	G	4: 58,145,341		probably benign	Het
Tbc1d31	T	C	15: 57,937,948	I293T	probably benign	Het
Timp4	T	A	6: 115,246,483	I160F	probably damaging	Het
Tmem87a	A	T	2: 120,404,053	V3E	probably damaging	Het
Utp4	T	A	8: 106,906,241	H285Q	probably benign	Het
Vrk1	T	G	12: 106,062,653	S305A	probably benign	Het
Zfp329	G	T	7: 12,811,179	H139Q	possibly 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
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
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

2015-04-16