Mutagenetix > Incidental Mutation

Incidental Mutation 'R4689:Nmral1'

354794

Institutional Source

Beutler Lab

Gene Symbol

Nmral1

Ensembl Gene

ENSMUSG00000063445

Gene Name

NmrA-like family domain containing 1

Synonyms

1110025F24Rik

MMRRC Submission

041940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4529181-4537220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4532422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 130 (F130L)

Ref Sequence

ENSEMBL: ENSMUSP00000112754 (fasta)

Gene Model

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

AlphaFold

Q8K2T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074970
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445
AA Change: F130L

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 damaging
Transcript: ENSMUST00000079130
AA Change: F140L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445
AA Change: F140L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115851
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445
AA Change: F130L

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 damaging
Transcript: ENSMUST00000120056
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445
AA Change: F130L

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

Meta Mutation Damage Score

0.6642

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,996 (GRCm39)	V336L	probably benign	Het
Acbd4	T	C	11: 102,996,194 (GRCm39)	L165P	possibly damaging	Het
Adam10	T	C	9: 70,673,236 (GRCm39)	S456P	possibly damaging	Het
Adgre4	T	C	17: 56,109,096 (GRCm39)	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,572,834 (GRCm39)	Y528*	probably null	Het
Aldh3b3	G	A	19: 4,014,516 (GRCm39)	V84M	probably damaging	Het
Cdca8	C	T	4: 124,824,896 (GRCm39)	G78E	probably damaging	Het
Cry2	T	C	2: 92,254,899 (GRCm39)	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,627,032 (GRCm39)	Y266C	probably benign	Het
Dkk4	T	C	8: 23,115,336 (GRCm39)	F62S	probably benign	Het
Dnah12	G	A	14: 26,427,994 (GRCm39)	V207I	probably benign	Het
Dthd1	T	C	5: 63,000,255 (GRCm39)	C526R	probably damaging	Het
Dubr	A	T	16: 50,552,866 (GRCm39)		noncoding transcript	Het
F5	T	C	1: 163,979,542 (GRCm39)		probably benign	Het
Flcn	A	C	11: 59,691,870 (GRCm39)	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,084,562 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,455,056 (GRCm39)	D2173E	probably benign	Het
Fstl4	C	T	11: 52,959,477 (GRCm39)	Q173*	probably null	Het
Gfra3	G	A	18: 34,823,640 (GRCm39)	P381S	unknown	Het
Gm28308	C	A	6: 52,190,291 (GRCm39)		probably benign	Het
Gm8730	T	A	8: 103,592,379 (GRCm39)		noncoding transcript	Het
Gzmd	T	C	14: 56,368,683 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,600 (GRCm39)	Y366H	probably damaging	Het
Hydin	A	T	8: 111,322,046 (GRCm39)	H4566L	probably benign	Het
Ifi213	G	A	1: 173,417,986 (GRCm39)	T142I	possibly damaging	Het
Kif13b	T	A	14: 65,010,513 (GRCm39)	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,840,286 (GRCm39)	C329F	unknown	Het
Larp1	G	T	11: 57,932,439 (GRCm39)	G207W	probably damaging	Het
Lfng	A	G	5: 140,600,194 (GRCm39)	D368G	probably damaging	Het
Mbd5	G	A	2: 49,148,291 (GRCm39)	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,247,263 (GRCm39)	Y301*	probably null	Het
Myh7b	T	C	2: 155,472,434 (GRCm39)	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,488,890 (GRCm39)	V687A	probably damaging	Het
Naip2	A	T	13: 100,285,320 (GRCm39)	I1292N	probably damaging	Het
Nos1	A	G	5: 118,017,450 (GRCm39)	N271S	probably benign	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Or12d16-ps1	A	T	17: 37,705,662 (GRCm39)	N77I	probably damaging	Het
Or2aj4	A	T	16: 19,385,263 (GRCm39)	Y123*	probably null	Het
Or4e2	T	C	14: 52,688,671 (GRCm39)	I267T	probably benign	Het
Or6c210	T	C	10: 129,496,185 (GRCm39)	V170A	probably benign	Het
Pkdcc	C	G	17: 83,523,290 (GRCm39)	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,350,144 (GRCm39)	L265F	probably benign	Het
Prkaa1	A	G	15: 5,208,177 (GRCm39)	T473A	probably benign	Het
Prpf3	G	A	3: 95,743,801 (GRCm39)	Q451*	probably null	Het
Psma5-ps	T	A	10: 85,150,065 (GRCm39)		noncoding transcript	Het
Ptprh	T	A	7: 4,600,996 (GRCm39)	D127V	possibly damaging	Het
Rab36	T	C	10: 74,877,765 (GRCm39)		probably null	Het
Rasa1	A	T	13: 85,386,282 (GRCm39)	Y427*	probably null	Het
Rgs11	T	C	17: 26,423,521 (GRCm39)		probably null	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Shank2	G	A	7: 143,974,342 (GRCm39)	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,875,173 (GRCm39)	M43R	probably benign	Het
Slc40a1	T	A	1: 45,951,473 (GRCm39)	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,722,996 (GRCm39)	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,213,691 (GRCm39)	T307A	probably benign	Het
Stt3a	T	C	9: 36,644,225 (GRCm39)	T705A	possibly damaging	Het
Tec	G	A	5: 72,980,980 (GRCm39)		probably benign	Het
Trp63	A	T	16: 25,684,012 (GRCm39)	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,623 (GRCm39)	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,012,074 (GRCm39)	H645R	possibly damaging	Het
Wdfy4	A	G	14: 32,831,505 (GRCm39)	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,218,151 (GRCm39)	T33A	probably benign	Het
Zfp318	T	A	17: 46,710,560 (GRCm39)	V761D	probably damaging	Het
Zfp358	T	C	8: 3,546,146 (GRCm39)		probably null	Het
Zfp661	G	A	2: 127,419,468 (GRCm39)	P224L	probably damaging	Het
Zfp937	T	C	2: 150,078,706 (GRCm39)	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,461,040 (GRCm39)	H364R	probably damaging	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
IGL02065:Nmral1	APN	16	4,534,346 (GRCm39)	missense	probably benign	0.43
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGTGATCTGACAACAGTCCC -3'
(R):5'- AGGATCAGGGACTCATGCTC -3'

Sequencing Primer
(F):5'- ATGCTCCATGTGCTGAGAAC -3'
(R):5'- GATCAGGGACTCATGCTCTTCCTC -3'

Posted On

2015-10-21