Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Miga2'

608929

Institutional Source

Beutler Lab

Gene Symbol

Miga2

Ensembl Gene

ENSMUSG00000026858

Gene Name

mitoguardin 2

Synonyms

Fam73b, R74766, 5730472N09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30364233-30385521 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30371204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 170 (D170E)

Ref Sequence

ENSEMBL: ENSMUSP00000077127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077977] [ENSMUST00000100214] [ENSMUST00000116543] [ENSMUST00000140075] [ENSMUST00000142801]

AlphaFold

Q8BK03

Predicted Effect

probably benign
Transcript: ENSMUST00000077977
AA Change: D170E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858
AA Change: D170E

Domain	Start	End	E-Value	Type
Pfam:DUF2217	30	568	5.6e-242	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100214
AA Change: D170E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
AA Change: D170E

Domain	Start	End	E-Value	Type
Pfam:DUF2217	31	568	6.9e-228	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116543

SMART Domains

Protein: ENSMUSP00000135126
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	1	91	3.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140075
AA Change: D170E

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
AA Change: D170E

Domain	Start	End	E-Value	Type
Pfam:DUF2217	30	393	5.1e-125	PFAM
low complexity region	409	420	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142801

SMART Domains

Protein: ENSMUSP00000118253
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	30	139	4.1e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,602,231	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,260,514	E1530G	possibly damaging	Het
BC005561	T	C	5: 104,521,346	S1245P	possibly damaging	Het
C3	A	G	17: 57,226,264	F113S	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Csmd1	T	C	8: 15,961,418	N2545S	probably damaging	Het
Ctsh	A	G	9: 90,061,423	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697	Y172F	probably benign	Het
Ddx52	A	G	11: 83,952,085		probably null	Het
Dmxl1	A	G	18: 49,893,407	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,791,769	L3813F	probably benign	Het
Efl1	A	G	7: 82,658,099	I68V	probably damaging	Het
Etnk2	T	C	1: 133,365,700	V127A	possibly damaging	Het
Fank1	G	C	7: 133,876,825	R206P	probably damaging	Het
Fbxw27	G	A	9: 109,789,400	R73*	probably null	Het
Fndc1	A	T	17: 7,773,197	S556T	unknown	Het
Gnb3	T	C	6: 124,837,092	T178A	probably benign	Het
H2-M10.3	A	T	17: 36,366,282	L326Q	probably benign	Het
Hist1h2bk	T	C	13: 22,036,055	S57P	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Itfg2	T	C	6: 128,416,381		probably benign	Het
Kcnma1	G	A	14: 23,336,989	P995L	probably benign	Het
Lama1	G	A	17: 67,769,435	G1068D		Het
Lats1	A	T	10: 7,697,526	K125*	probably null	Het
Lipg	C	T	18: 74,948,007	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,431,213	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,562,369	G544D		Het
Lrrc29	A	G	8: 105,315,533	I221T	probably benign	Het
Lyst	A	T	13: 13,707,683	N2853I	probably benign	Het
Mars	A	G	10: 127,300,245	I525T	probably damaging	Het
Mrpl34	T	C	8: 71,465,267	V28A	probably benign	Het
Muc16	A	T	9: 18,642,694	V4101E	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myo1f	A	G	17: 33,598,296	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,189,869	T376I	probably benign	Het
Nsd1	A	G	13: 55,313,255	T2535A	probably damaging	Het
Nup98	T	A	7: 102,176,349	T428S	probably benign	Het
Omd	A	G	13: 49,590,154	M227V	probably damaging	Het
Osbpl7	A	C	11: 97,060,457	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,072,658	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,312,571	V537A	probably benign	Het
Pou2f2	T	C	7: 25,116,064	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,740,482	T640A	probably benign	Het
Ptar1	C	T	19: 23,708,794	P157S	probably benign	Het
Rapgef2	T	A	3: 79,066,626	D1471V	possibly damaging	Het
Rgs7	A	T	1: 175,149,650		probably null	Het
Rhag	A	G	17: 40,831,645	Y247C	probably benign	Het
Sardh	A	G	2: 27,239,371	I305T	probably damaging	Het
Scn11a	A	G	9: 119,804,551	I372T	probably benign	Het
Scn3a	G	T	2: 65,536,515	D54E	probably damaging	Het
Senp2	A	G	16: 22,014,231	T90A	probably benign	Het
Serpinh1	C	T	7: 99,349,288	R45H	probably benign	Het
Siglecg	T	C	7: 43,409,279	V152A	probably benign	Het
Sipa1l2	T	A	8: 125,447,598	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,625,949	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,442,509	L133Q	probably damaging	Het
Slc6a16	A	G	7: 45,259,347	E117G	probably damaging	Het
Tmem235	G	A	11: 117,864,207	V162M	probably benign	Het
Trank1	A	G	9: 111,392,516	T2774A	probably benign	Het
Trav10n	A	T	14: 53,122,130	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,033,247	W55*	probably null	Het
Zfp654	G	T	16: 64,851,648	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	Het

Other mutations in Miga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Miga2	APN	2	30367717	missense	probably benign	0.04
IGL01353:Miga2	APN	2	30371233	critical splice donor site	probably null
IGL01679:Miga2	APN	2	30378250	missense	probably benign	0.07
IGL03113:Miga2	APN	2	30384010	missense	possibly damaging	0.96
uncertain	UTSW	2	30371196	missense	probably benign	0.00
R0620:Miga2	UTSW	2	30381744	unclassified	probably benign
R1698:Miga2	UTSW	2	30377997	missense	probably damaging	1.00
R1729:Miga2	UTSW	2	30368968	missense	probably damaging	1.00
R1994:Miga2	UTSW	2	30381988	missense	probably damaging	1.00
R2377:Miga2	UTSW	2	30383990	nonsense	probably null
R2891:Miga2	UTSW	2	30378294	splice site	probably null
R2892:Miga2	UTSW	2	30378294	splice site	probably null
R2893:Miga2	UTSW	2	30378294	splice site	probably null
R3788:Miga2	UTSW	2	30371225	nonsense	probably null
R4042:Miga2	UTSW	2	30367726	missense	possibly damaging	0.87
R5214:Miga2	UTSW	2	30371196	missense	probably benign	0.00
R5750:Miga2	UTSW	2	30371565	missense	probably damaging	1.00
R5928:Miga2	UTSW	2	30368863	splice site	probably benign
R6134:Miga2	UTSW	2	30371217	missense	probably benign	0.00
R6209:Miga2	UTSW	2	30381662	missense	probably damaging	1.00
R6860:Miga2	UTSW	2	30371163	missense	probably benign	0.15
R7373:Miga2	UTSW	2	30382071	missense	probably damaging	1.00
R8370:Miga2	UTSW	2	30375743	frame shift	probably null
R8371:Miga2	UTSW	2	30375743	frame shift	probably null
R8374:Miga2	UTSW	2	30375743	frame shift	probably null
R8847:Miga2	UTSW	2	30383978	missense	probably damaging	0.99
R9060:Miga2	UTSW	2	30381723	missense	probably damaging	1.00
R9253:Miga2	UTSW	2	30371227	missense	probably benign	0.18
R9286:Miga2	UTSW	2	30383597	missense	probably benign	0.33
R9526:Miga2	UTSW	2	30378388	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTATCTAGGAGAGTACCTGTGGC -3'
(R):5'- ACTCTACAGCTGGGTCTTGC -3'

Sequencing Primer
(F):5'- AGAGTACCTGTGGCCTGCG -3'
(R):5'- TGGGCTATCCAGTACTTAGGC -3'

Posted On

2019-12-20