Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01307:Nhlrc2'

73509

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

1200003G01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01307

Quality Score

Status

Chromosome

Chromosomal Location

56536693-56591935 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 56540231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 73 (Y73*)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423] [ENSMUST00000182059] [ENSMUST00000182276] [ENSMUST00000183143]

AlphaFold

Q8BZW8

Predicted Effect

probably null
Transcript: ENSMUST00000071423
AA Change: Y73*

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: Y73*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182058

Predicted Effect

probably benign
Transcript: ENSMUST00000182059

Predicted Effect

probably benign
Transcript: ENSMUST00000182276

SMART Domains

Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077

Domain	Start	End	E-Value	Type
low complexity region	90	110	N/A	INTRINSIC
low complexity region	211	220	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
Lactamase_B	705	853	7.86e-1	SMART
Pfam:DRMBL	921	1027	1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183143

SMART Domains

Protein: ENSMUSP00000138537
Gene: ENSMUSG00000025077

Domain	Start	End	E-Value	Type
low complexity region	90	110	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,159 (GRCm39)	M2302K	possibly damaging	Het
Actl9	A	G	17: 33,653,152 (GRCm39)	E404G	probably damaging	Het
Adamts12	A	T	15: 11,237,632 (GRCm39)	I314L	possibly damaging	Het
Card6	C	A	15: 5,129,484 (GRCm39)	M637I	possibly damaging	Het
Ccdc122	G	A	14: 77,329,516 (GRCm39)		probably benign	Het
Cdh10	A	G	15: 18,899,886 (GRCm39)	D71G	probably benign	Het
Cdk15	A	T	1: 59,326,955 (GRCm39)	Y214F	probably benign	Het
Cdon	A	G	9: 35,368,860 (GRCm39)	K365E	probably benign	Het
Cyp2c37	T	C	19: 39,981,023 (GRCm39)	V47A	probably benign	Het
Ddc	T	A	11: 11,789,462 (GRCm39)	D271V	probably damaging	Het
Dnah6	G	A	6: 73,042,708 (GRCm39)	A3290V	probably damaging	Het
Dtl	A	T	1: 191,302,811 (GRCm39)	S20T	possibly damaging	Het
Egf	A	C	3: 129,533,642 (GRCm39)	I66S	probably damaging	Het
Eif4a3	T	C	11: 119,184,387 (GRCm39)	K268E	probably damaging	Het
Fbxl16	A	T	17: 26,038,338 (GRCm39)		probably benign	Het
Fez2	C	T	17: 78,689,029 (GRCm39)		probably benign	Het
Fras1	C	A	5: 96,929,551 (GRCm39)	T3985K	probably benign	Het
Gbp4	T	C	5: 105,284,887 (GRCm39)	M1V	probably null	Het
Gpnmb	A	G	6: 49,022,299 (GRCm39)	D143G	probably benign	Het
Grm5	A	T	7: 87,724,220 (GRCm39)	T837S	probably damaging	Het
Hmcn1	T	C	1: 150,620,752 (GRCm39)	T1153A	possibly damaging	Het
Hp	C	T	8: 110,302,415 (GRCm39)	V178I	probably benign	Het
Macf1	A	T	4: 123,276,922 (GRCm39)	V4061E	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtf2	C	T	5: 108,254,756 (GRCm39)	T519M	probably damaging	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Ncapd2	A	G	6: 125,145,582 (GRCm39)	V1355A	possibly damaging	Het
Nwd2	A	T	5: 63,965,626 (GRCm39)	S1737C	possibly damaging	Het
Or1p1	T	A	11: 74,180,254 (GRCm39)	C261S	possibly damaging	Het
Osmr	A	G	15: 6,873,908 (GRCm39)	V163A	probably damaging	Het
Palm3	T	C	8: 84,756,074 (GRCm39)	S529P	possibly damaging	Het
Pcnt	A	G	10: 76,247,422 (GRCm39)	Y1037H	probably damaging	Het
Pkhd1l1	T	C	15: 44,393,425 (GRCm39)	I1920T	possibly damaging	Het
Plekha7	A	G	7: 115,744,479 (GRCm39)		probably benign	Het
Psd	C	T	19: 46,303,097 (GRCm39)	G762R	probably damaging	Het
Psmb8	A	G	17: 34,418,210 (GRCm39)	T51A	probably benign	Het
Rbm12	A	C	2: 155,937,302 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,804,085 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,800 (GRCm39)	G158S	probably damaging	Het
Spata31f1a	G	T	4: 42,850,963 (GRCm39)	L398I	probably benign	Het
Stag1	A	G	9: 100,833,841 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,302,749 (GRCm39)	M74T	probably benign	Het
Trim24	C	A	6: 37,942,570 (GRCm39)	D957E	possibly damaging	Het
Trpa1	A	T	1: 14,966,771 (GRCm39)	M531K	probably benign	Het
Ttn	A	G	2: 76,736,637 (GRCm39)	Y4376H	possibly damaging	Het
Twsg1	T	C	17: 66,255,646 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Vwa5b2	A	G	16: 20,423,020 (GRCm39)	D1006G	probably benign	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Nhlrc2	APN	19	56,564,587 (GRCm39)	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56,563,219 (GRCm39)	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56,559,282 (GRCm39)	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56,585,793 (GRCm39)	missense	probably benign	0.10
IGL02303:Nhlrc2	APN	19	56,563,280 (GRCm39)	missense	probably damaging	1.00
IGL02349:Nhlrc2	APN	19	56,580,151 (GRCm39)	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56,559,086 (GRCm39)	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56,540,302 (GRCm39)	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56,558,959 (GRCm39)	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56,585,710 (GRCm39)	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56,576,703 (GRCm39)	critical splice donor site	probably null
R3855:Nhlrc2	UTSW	19	56,576,703 (GRCm39)	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56,576,703 (GRCm39)	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56,564,699 (GRCm39)	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56,558,898 (GRCm39)	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56,558,966 (GRCm39)	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56,559,016 (GRCm39)	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56,559,291 (GRCm39)	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56,580,216 (GRCm39)	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56,580,931 (GRCm39)	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56,585,810 (GRCm39)	missense	not run
R7609:Nhlrc2	UTSW	19	56,583,328 (GRCm39)	missense	probably benign
R8811:Nhlrc2	UTSW	19	56,583,344 (GRCm39)	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56,580,184 (GRCm39)	missense	possibly damaging	0.72

Posted On

2013-10-07