Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Nlrx1'

165633

Institutional Source

Beutler Lab

Gene Symbol

Nlrx1

Ensembl Gene

ENSMUSG00000032109

Gene Name

NLR family member X1

Synonyms

MMRRC Submission

039531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R1478 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44164014-44179896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44175374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 134 (H134R)

Ref Sequence

ENSEMBL: ENSMUSP00000149124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034621] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000213803] [ENSMUST00000217465]

AlphaFold

Q3TL44

Predicted Effect

probably benign
Transcript: ENSMUST00000034621
AA Change: H134R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: H134R

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.1e-22	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168499
AA Change: H134R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: H134R

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.3e-23	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169651
AA Change: H134R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: H134R

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.3e-23	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213764

Predicted Effect

probably benign
Transcript: ENSMUST00000213803
AA Change: H134R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000217465
AA Change: H134R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,580,287 (GRCm39)	I204N	possibly damaging	Het
Acaca	A	G	11: 84,263,453 (GRCm39)	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,103,938 (GRCm39)	R170C	probably benign	Het
BC028528	T	C	3: 95,799,271 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,737,955 (GRCm39)	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,745,012 (GRCm39)	T50A	possibly damaging	Het
Ccdc83	T	C	7: 89,908,677 (GRCm39)	D19G	probably damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cct8l1	T	C	5: 25,722,767 (GRCm39)	V494A	probably benign	Het
Chd1	T	C	17: 15,959,769 (GRCm39)	F663L	probably damaging	Het
Chn2	A	T	6: 54,270,065 (GRCm39)	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,460,295 (GRCm39)	V679A	probably damaging	Het
Cntn6	C	T	6: 104,753,389 (GRCm39)	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,795,581 (GRCm39)	L457I	probably benign	Het
Dera	T	A	6: 137,807,193 (GRCm39)	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,171,404 (GRCm39)	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,292,671 (GRCm39)	V114A	probably damaging	Het
Dscam	C	T	16: 96,592,110 (GRCm39)	V722M	probably benign	Het
Dsp	A	G	13: 38,365,114 (GRCm39)	N499S	probably damaging	Het
Ecd	A	T	14: 20,396,725 (GRCm39)	Y53*	probably null	Het
Esyt3	T	C	9: 99,200,119 (GRCm39)	T692A	probably benign	Het
Fat1	T	A	8: 45,478,659 (GRCm39)	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,795,072 (GRCm39)		probably null	Het
Fscn3	A	G	6: 28,430,567 (GRCm39)	M246V	probably benign	Het
Gde1	G	T	7: 118,291,007 (GRCm39)	T106K	probably benign	Het
Gjc2	A	G	11: 59,068,434 (GRCm39)	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,341,260 (GRCm39)	M168K	probably damaging	Het
Hmx3	A	G	7: 131,145,826 (GRCm39)	E178G	probably damaging	Het
Htt	A	G	5: 34,961,171 (GRCm39)	Y266C	probably damaging	Het
Jkampl	A	T	6: 73,446,039 (GRCm39)	L170Q	probably damaging	Het
Kif27	G	T	13: 58,451,359 (GRCm39)	R990S	probably damaging	Het
Krtap22-2	A	T	16: 88,807,534 (GRCm39)	Y21*	probably null	Het
Lrrc41	T	A	4: 115,952,405 (GRCm39)	L661*	probably null	Het
Lrrc63	T	C	14: 75,363,424 (GRCm39)	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892 (GRCm39)	L84P	probably damaging	Het
Myh8	T	C	11: 67,183,551 (GRCm39)	I754T	probably benign	Het
Neb	A	C	2: 52,065,619 (GRCm39)	D5961E	probably benign	Het
Npepps	A	T	11: 97,117,673 (GRCm39)	M542K	probably benign	Het
Nup160	C	T	2: 90,509,743 (GRCm39)		probably benign	Het
Or3a1c	T	A	11: 74,045,963 (GRCm39)		probably null	Het
Or8g33	T	A	9: 39,337,888 (GRCm39)	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,302,136 (GRCm39)		probably null	Het
Ppp6r1	A	T	7: 4,643,377 (GRCm39)		probably null	Het
Prss33	A	G	17: 24,054,072 (GRCm39)	W45R	probably damaging	Het
Ptprf	A	T	4: 118,069,302 (GRCm39)	Y980*	probably null	Het
Qrich1	T	C	9: 108,436,531 (GRCm39)	V743A	probably benign	Het
Rev3l	G	A	10: 39,659,329 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,376,369 (GRCm39)	N297K	probably benign	Het
Sap130	A	G	18: 31,813,527 (GRCm39)	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,031,863 (GRCm39)	V241A	probably benign	Het
Snx14	A	T	9: 88,276,581 (GRCm39)	V577E	probably benign	Het
Srrm2	T	C	17: 24,034,876 (GRCm39)	S507P	probably benign	Het
Stat2	A	G	10: 128,117,969 (GRCm39)		probably null	Het
Susd5	T	C	9: 113,925,752 (GRCm39)	F545S	probably benign	Het
Tafa2	T	A	10: 123,429,401 (GRCm39)	M5K	possibly damaging	Het
Tnnt2	A	G	1: 135,775,764 (GRCm39)	T107A	probably benign	Het
Trappc6b	T	A	12: 59,094,953 (GRCm39)	I41F	possibly damaging	Het
Ttn	T	A	2: 76,682,417 (GRCm39)		probably benign	Het
Vmn1r88	A	C	7: 12,911,878 (GRCm39)	D78A	probably damaging	Het
Xpc	C	T	6: 91,485,510 (GRCm39)	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,241,623 (GRCm39)	A890V	probably damaging	Het
Zfp493	A	G	13: 67,934,680 (GRCm39)	H211R	probably damaging	Het
Zfp958	A	T	8: 4,679,190 (GRCm39)	H405L	probably damaging	Het

Other mutations in Nlrx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Nlrx1	APN	9	44,164,576 (GRCm39)	missense	probably damaging	0.96
IGL00233:Nlrx1	APN	9	44,175,365 (GRCm39)	missense	probably benign	0.37
IGL02388:Nlrx1	APN	9	44,175,302 (GRCm39)	missense	probably benign	0.09
IGL02450:Nlrx1	APN	9	44,164,798 (GRCm39)	missense	probably benign
IGL03353:Nlrx1	APN	9	44,167,890 (GRCm39)	missense	probably benign
R0180:Nlrx1	UTSW	9	44,166,756 (GRCm39)	missense	possibly damaging	0.95
R0416:Nlrx1	UTSW	9	44,174,211 (GRCm39)	missense	probably benign
R1762:Nlrx1	UTSW	9	44,174,937 (GRCm39)	missense	possibly damaging	0.49
R1921:Nlrx1	UTSW	9	44,165,431 (GRCm39)	nonsense	probably null
R1972:Nlrx1	UTSW	9	44,164,753 (GRCm39)	missense	probably benign	0.01
R2050:Nlrx1	UTSW	9	44,174,077 (GRCm39)	missense	probably damaging	1.00
R2100:Nlrx1	UTSW	9	44,173,905 (GRCm39)	missense	probably damaging	1.00
R3967:Nlrx1	UTSW	9	44,166,722 (GRCm39)	splice site	probably benign
R3968:Nlrx1	UTSW	9	44,166,722 (GRCm39)	splice site	probably benign
R3969:Nlrx1	UTSW	9	44,166,722 (GRCm39)	splice site	probably benign
R4898:Nlrx1	UTSW	9	44,168,194 (GRCm39)	missense	probably benign
R4951:Nlrx1	UTSW	9	44,164,726 (GRCm39)	missense	possibly damaging	0.81
R4956:Nlrx1	UTSW	9	44,173,909 (GRCm39)	nonsense	probably null
R4959:Nlrx1	UTSW	9	44,165,448 (GRCm39)	missense	possibly damaging	0.79
R5235:Nlrx1	UTSW	9	44,175,047 (GRCm39)	missense	probably damaging	0.99
R5536:Nlrx1	UTSW	9	44,175,183 (GRCm39)	missense	probably damaging	1.00
R6030:Nlrx1	UTSW	9	44,175,057 (GRCm39)	missense	probably damaging	1.00
R6030:Nlrx1	UTSW	9	44,175,057 (GRCm39)	missense	probably damaging	1.00
R6698:Nlrx1	UTSW	9	44,177,104 (GRCm39)	missense	probably damaging	1.00
R7130:Nlrx1	UTSW	9	44,173,638 (GRCm39)	missense	possibly damaging	0.83
R7253:Nlrx1	UTSW	9	44,176,001 (GRCm39)	splice site	probably null
R7457:Nlrx1	UTSW	9	44,167,807 (GRCm39)	missense	probably benign	0.28
R7863:Nlrx1	UTSW	9	44,176,509 (GRCm39)	missense	probably benign
R7937:Nlrx1	UTSW	9	44,176,086 (GRCm39)	missense	probably damaging	1.00
R8534:Nlrx1	UTSW	9	44,174,070 (GRCm39)	missense	probably benign	0.32
R8773:Nlrx1	UTSW	9	44,167,712 (GRCm39)	missense	probably benign
R8939:Nlrx1	UTSW	9	44,166,761 (GRCm39)	missense	probably damaging	1.00
R8993:Nlrx1	UTSW	9	44,168,238 (GRCm39)	splice site	probably benign
R9004:Nlrx1	UTSW	9	44,167,644 (GRCm39)	missense	probably benign	0.07
R9215:Nlrx1	UTSW	9	44,165,325 (GRCm39)	missense	probably benign
R9310:Nlrx1	UTSW	9	44,164,705 (GRCm39)	missense	probably damaging	1.00
X0023:Nlrx1	UTSW	9	44,167,860 (GRCm39)	missense	probably damaging	1.00
Z1176:Nlrx1	UTSW	9	44,168,220 (GRCm39)	missense	possibly damaging	0.51
Z1177:Nlrx1	UTSW	9	44,168,049 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CATCAGGGGCAACACCTCTTTCAG -3'
(R):5'- TATCCAAAGGCATCGCCGGAAC -3'

Sequencing Primer
(F):5'- TAACGCTGGGTCACAAGTTG -3'
(R):5'- AACCTCACCGAGTGGTTTAG -3'

Posted On

2014-03-28