Mutagenetix > Incidental Mutation

Incidental Mutation 'R3056:Micos13'

265192

Institutional Source

Beutler Lab

Gene Symbol

Micos13

Ensembl Gene

ENSMUSG00000049760

Gene Name

mitochondrial contact site and cristae organizing system subunit 13

Synonyms

2410015M20Rik, QIL1

MMRRC Submission

040565-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R3056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56914452-56916771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56915889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 55 (F55S)

Ref Sequence

ENSEMBL: ENSMUSP00000052908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052832] [ENSMUST00000080492] [ENSMUST00000095224] [ENSMUST00000182533]

AlphaFold

Q8R404

Predicted Effect

probably damaging
Transcript: ENSMUST00000052832
AA Change: F55S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052908
Gene: ENSMUSG00000049760
AA Change: F55S

Domain	Start	End	E-Value	Type
Pfam:QIL1	9	108	5.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080492

SMART Domains

Protein: ENSMUSP00000079340
Gene: ENSMUSG00000057863

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L36e	2	100	2.4e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095224

SMART Domains

Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
SAP	31	65	7.15e-11	SMART
coiled coil region	268	291	N/A	INTRINSIC
low complexity region	292	300	N/A	INTRINSIC
RRM	429	502	3.76e-19	SMART
coiled coil region	651	728	N/A	INTRINSIC
low complexity region	760	778	N/A	INTRINSIC
low complexity region	885	898	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182461

Predicted Effect

probably benign
Transcript: ENSMUST00000182533

SMART Domains

Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
SAP	31	65	7.15e-11	SMART
coiled coil region	268	291	N/A	INTRINSIC
low complexity region	292	300	N/A	INTRINSIC
RRM	429	502	3.76e-19	SMART
coiled coil region	651	728	N/A	INTRINSIC
low complexity region	760	778	N/A	INTRINSIC
low complexity region	831	842	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182913

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca1	A	T	4: 53,127,626 (GRCm39)	M131K	probably benign	Het
Agbl1	C	T	7: 76,416,232 (GRCm39)	T751M	possibly damaging	Het
Asb14	A	G	14: 26,636,146 (GRCm39)	I510V	possibly damaging	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
C6	T	C	15: 4,769,355 (GRCm39)	I187T	probably damaging	Het
Catsper3	T	C	13: 55,956,709 (GRCm39)	S376P	unknown	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cntn5	A	G	9: 10,419,076 (GRCm39)	L7P	probably benign	Het
Cplane1	T	C	15: 8,280,491 (GRCm39)	S2805P	unknown	Het
Cxcr6	A	T	9: 123,639,529 (GRCm39)	I177F	probably damaging	Het
Dnah7b	A	G	1: 46,307,869 (GRCm39)	D3061G	possibly damaging	Het
Epas1	T	C	17: 87,138,409 (GRCm39)	F835S	probably damaging	Het
Fat3	C	T	9: 15,871,792 (GRCm39)	R3533H	probably benign	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gpatch11	A	G	17: 79,151,272 (GRCm39)	T228A	probably damaging	Het
Greb1	G	T	12: 16,738,592 (GRCm39)	T1457K	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lmx1b	G	A	2: 33,457,297 (GRCm39)	Q168*	probably null	Het
Ltbp3	C	A	19: 5,801,434 (GRCm39)	N659K	probably benign	Het
Mrpl20	G	T	4: 155,888,329 (GRCm39)	V43F	possibly damaging	Het
Nlgn1	T	C	3: 25,487,860 (GRCm39)	N825S	possibly damaging	Het
Or5d36	T	A	2: 87,901,583 (GRCm39)	T48S	probably benign	Het
Or5p67	A	T	7: 107,922,757 (GRCm39)	V42E	possibly damaging	Het
Or8k3b	C	A	2: 86,520,896 (GRCm39)	C141F	possibly damaging	Het
Pccb	C	T	9: 100,912,250 (GRCm39)	R79Q	probably damaging	Het
Peg10	G	A	6: 4,755,029 (GRCm39)	R270H	possibly damaging	Het
Pttg1ip2	A	T	5: 5,507,283 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Timm29	T	C	9: 21,504,887 (GRCm39)	M185T	probably damaging	Het
Tmem92	C	T	11: 94,669,873 (GRCm39)	C86Y	probably benign	Het
Tnfrsf8	C	T	4: 145,011,895 (GRCm39)		probably null	Het
Tnks1bp1	T	A	2: 84,900,344 (GRCm39)	C1433*	probably null	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,360 (GRCm39)	Y405F	probably damaging	Het
Wiz	A	G	17: 32,576,671 (GRCm39)	S628P	probably benign	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	Het

Other mutations in Micos13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02589:Micos13	APN	17	56,915,856 (GRCm39)	missense	probably benign	0.01
R5316:Micos13	UTSW	17	56,916,649 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TGACACGGGAAACAGGTCAC -3'
(R):5'- TCGTGTCACAAAGGCAAATG -3'

Sequencing Primer
(F):5'- GGAAACAGGTCACAGCCTTGTC -3'
(R):5'- TTTAATCCCAGCACTTAGGAGGCAG -3'

Posted On

2015-02-05