Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02065:Nmral1'

185595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nmral1

Ensembl Gene

ENSMUSG00000063445

Gene Name

NmrA-like family domain containing 1

Synonyms

1110025F24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02065

Quality Score

Status

Chromosome

Chromosomal Location

4529181-4537220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4534346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 32 (I32F)

Ref Sequence

ENSEMBL: ENSMUSP00000111517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074970] [ENSMUST00000079130] [ENSMUST00000115851] [ENSMUST00000120056]

AlphaFold

Q8K2T1

Predicted Effect

probably benign
Transcript: ENSMUST00000074970
AA Change: I32F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445
AA Change: I32F

Domain	Start	End	E-Value	Type
Pfam:adh_short	5	80	2.2e-7	PFAM
Pfam:KR	6	79	1.5e-7	PFAM
Pfam:TrkA_N	7	92	4.1e-7	PFAM
Pfam:NAD_binding_10	7	191	5.9e-17	PFAM
Pfam:NmrA	7	240	1e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079130
AA Change: I32F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445
AA Change: I32F

Domain	Start	End	E-Value	Type
Pfam:NmrA	7	250	3.9e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115851
AA Change: I32F

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445
AA Change: I32F

Domain	Start	End	E-Value	Type
Pfam:adh_short	5	80	3.9e-7	PFAM
Pfam:KR	6	79	2.4e-7	PFAM
Pfam:TrkA_N	7	93	9.2e-8	PFAM
Pfam:NAD_binding_10	7	188	8.1e-17	PFAM
Pfam:NmrA	7	240	1.5e-58	PFAM
low complexity region	242	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120056
AA Change: I32F

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445
AA Change: I32F

Domain	Start	End	E-Value	Type
Pfam:adh_short	5	80	1.1e-6	PFAM
Pfam:KR	6	79	7.4e-7	PFAM
Pfam:TrkA_N	7	112	5.9e-7	PFAM
Pfam:NAD_binding_10	7	188	4.2e-16	PFAM
Pfam:NmrA	7	240	6.7e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125140

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,827 (GRCm39)	E770K	possibly damaging	Het
Abhd17a	C	A	10: 80,422,395 (GRCm39)	A22S	probably benign	Het
Actbl2	A	G	13: 111,392,225 (GRCm39)	T187A	probably benign	Het
Adgrl3	G	A	5: 81,660,064 (GRCm39)	G278R	probably damaging	Het
Apoh	C	A	11: 108,305,131 (GRCm39)		probably benign	Het
Atp2b2	A	G	6: 113,790,828 (GRCm39)	F192S	probably damaging	Het
Bdh1	T	C	16: 31,268,754 (GRCm39)	I163T	possibly damaging	Het
Bmp1	G	T	14: 70,723,660 (GRCm39)	N725K	probably damaging	Het
Bmp1	T	A	14: 70,727,547 (GRCm39)	I679F	probably damaging	Het
Bmp2	T	A	2: 133,402,844 (GRCm39)	F132I	probably benign	Het
Bpifb5	T	C	2: 154,069,103 (GRCm39)	L140P	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil3	T	C	14: 55,731,279 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,586 (GRCm39)	T730A	possibly damaging	Het
Cdh10	G	T	15: 19,013,342 (GRCm39)	K647N	probably damaging	Het
Cdh17	A	C	4: 11,771,373 (GRCm39)		probably benign	Het
Cep126	A	G	9: 8,099,925 (GRCm39)	S870P	probably benign	Het
Col6a4	T	C	9: 105,954,302 (GRCm39)	T346A	probably damaging	Het
Csmd3	A	C	15: 47,530,024 (GRCm39)	V2592G	probably damaging	Het
Dnajc16	A	T	4: 141,504,244 (GRCm39)	F239I	probably damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
F5	G	A	1: 164,017,695 (GRCm39)	V591M	probably damaging	Het
Fchsd2	T	G	7: 100,826,429 (GRCm39)		probably null	Het
Flad1	A	T	3: 89,316,294 (GRCm39)	D89E	probably damaging	Het
Fsd1	C	A	17: 56,303,499 (GRCm39)	P457Q	probably damaging	Het
Gm21985	A	G	2: 112,187,929 (GRCm39)	D1012G	possibly damaging	Het
Gon4l	A	G	3: 88,764,517 (GRCm39)	D366G	probably null	Het
Hadha	A	G	5: 30,347,843 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,122,513 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,426,136 (GRCm39)	K24R	probably benign	Het
Map3k21	A	G	8: 126,668,397 (GRCm39)	D661G	probably benign	Het
Mical1	A	T	10: 41,360,407 (GRCm39)	K615N	possibly damaging	Het
Ncor1	T	C	11: 62,310,435 (GRCm39)	K204E	possibly damaging	Het
Nrros	T	C	16: 31,963,492 (GRCm39)	D175G	possibly damaging	Het
Or10ak8	G	A	4: 118,773,968 (GRCm39)	T232I	probably benign	Het
Or12j5	T	C	7: 140,084,077 (GRCm39)	I98M	probably benign	Het
Ryr2	A	G	13: 11,587,143 (GRCm39)	F4713L	possibly damaging	Het
Serpinb1b	G	A	13: 33,275,301 (GRCm39)	G142D	possibly damaging	Het
Slc10a1	A	G	12: 81,007,248 (GRCm39)	S178P	possibly damaging	Het
Spint1	G	A	2: 119,068,698 (GRCm39)	R144H	probably benign	Het
Sult6b1	C	T	17: 79,196,504 (GRCm39)	G213R	probably damaging	Het
Themis3	G	T	17: 66,862,900 (GRCm39)	H353N	probably benign	Het
Tpr	T	C	1: 150,289,525 (GRCm39)	S619P	probably benign	Het
Ttn	A	T	2: 76,645,134 (GRCm39)	V11161E	probably damaging	Het
Usp13	G	A	3: 32,987,314 (GRCm39)	V837I	probably damaging	Het
Usp25	T	C	16: 76,880,670 (GRCm39)	V677A	probably benign	Het
Wdr62	A	G	7: 29,942,894 (GRCm39)	V1001A	possibly damaging	Het
Whrn	A	T	4: 63,336,822 (GRCm39)	I580N	possibly damaging	Het
Wls	T	A	3: 159,616,993 (GRCm39)	V344D	probably damaging	Het
Zan	A	T	5: 137,385,222 (GRCm39)	Y5070*	probably null	Het

Other mutations in Nmral1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Nmral1	APN	16	4,534,240 (GRCm39)	missense	probably benign	0.02
IGL00948:Nmral1	APN	16	4,534,270 (GRCm39)	missense	probably damaging	1.00
R2061:Nmral1	UTSW	16	4,534,193 (GRCm39)	missense	probably damaging	1.00
R2070:Nmral1	UTSW	16	4,534,211 (GRCm39)	missense	probably damaging	1.00
R2071:Nmral1	UTSW	16	4,534,211 (GRCm39)	missense	probably damaging	1.00
R3150:Nmral1	UTSW	16	4,534,333 (GRCm39)	missense	probably damaging	1.00
R4369:Nmral1	UTSW	16	4,532,394 (GRCm39)	missense	probably damaging	1.00
R4689:Nmral1	UTSW	16	4,532,422 (GRCm39)	missense	probably damaging	1.00
R4690:Nmral1	UTSW	16	4,534,205 (GRCm39)	missense	probably damaging	1.00
R4786:Nmral1	UTSW	16	4,534,288 (GRCm39)	missense	probably damaging	1.00
R4948:Nmral1	UTSW	16	4,534,274 (GRCm39)	nonsense	probably null
R5090:Nmral1	UTSW	16	4,532,395 (GRCm39)	missense	probably damaging	1.00
R5503:Nmral1	UTSW	16	4,533,493 (GRCm39)	missense	probably benign
R5989:Nmral1	UTSW	16	4,536,902 (GRCm39)	start gained	probably benign
R6525:Nmral1	UTSW	16	4,532,296 (GRCm39)	nonsense	probably null
R7313:Nmral1	UTSW	16	4,531,660 (GRCm39)	missense	probably benign	0.00
R8202:Nmral1	UTSW	16	4,532,448 (GRCm39)	missense	probably damaging	1.00
R8257:Nmral1	UTSW	16	4,534,267 (GRCm39)	missense	probably damaging	1.00
R8280:Nmral1	UTSW	16	4,531,659 (GRCm39)	missense	probably damaging	0.98
R9228:Nmral1	UTSW	16	4,531,631 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07