Mutagenetix > Incidental Mutation

Incidental Mutation 'R6550:Gm10912'

521481

Institutional Source

Beutler Lab

Gene Symbol

Gm10912

Ensembl Gene

ENSMUSG00000078091

Gene Name

predicted gene 10912

Synonyms

MMRRC Submission

044675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103896142-103897831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103896996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 45 (T45I)

Ref Sequence

ENSEMBL: ENSMUSP00000100487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028603] [ENSMUST00000090429] [ENSMUST00000099666] [ENSMUST00000104891] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000111136] [ENSMUST00000129749]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028603

SMART Domains

Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	294	384	3.1e-30	PFAM
coiled coil region	417	446	N/A	INTRINSIC
low complexity region	462	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090429

SMART Domains

Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099666

SMART Domains

Protein: ENSMUSP00000097259
Gene: ENSMUSG00000075006

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104891
AA Change: T45I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100487
Gene: ENSMUSG00000078091
AA Change: T45I

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111130

SMART Domains

Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111131

SMART Domains

Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	84	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111132

SMART Domains

Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	55	1.2e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111136

SMART Domains

Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	293	361	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129749

SMART Domains

Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	A	G	2: 22,748,245 (GRCm39)	D355G	probably damaging	Het
Asz1	T	C	6: 18,051,380 (GRCm39)	D433G	probably damaging	Het
Atl3	A	G	19: 7,499,503 (GRCm39)	T256A	probably benign	Het
Atp8b4	T	A	2: 126,266,113 (GRCm39)	T183S	probably damaging	Het
Bahcc1	C	T	11: 120,167,477 (GRCm39)	H1293Y	possibly damaging	Het
Bin2	A	G	15: 100,543,358 (GRCm39)	V243A	probably benign	Het
Camta1	A	C	4: 151,222,832 (GRCm39)	F908L	probably damaging	Het
Cbx2	T	C	11: 118,919,851 (GRCm39)	V472A	possibly damaging	Het
Cd22	T	C	7: 30,576,977 (GRCm39)	D110G	probably benign	Het
Cfap69	A	T	5: 5,631,220 (GRCm39)	D764E	probably benign	Het
Col2a1	A	G	15: 97,874,674 (GRCm39)	I1321T	unknown	Het
Cyp2c67	G	T	19: 39,605,854 (GRCm39)	Y347*	probably null	Het
D630044L22Rik	A	T	17: 26,180,628 (GRCm39)	R66S	possibly damaging	Het
Defa27	A	C	8: 21,806,340 (GRCm39)	R46S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,886 (GRCm39)	M58V	probably benign	Het
Efhb	G	T	17: 53,728,968 (GRCm39)	H574N	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erlin1	A	T	19: 44,025,602 (GRCm39)		probably null	Het
Hsh2d	C	A	8: 72,952,297 (GRCm39)	T156K	probably benign	Het
Lrrc49	G	T	9: 60,584,430 (GRCm39)	Q139K	probably benign	Het
Map3k21	A	G	8: 126,664,031 (GRCm39)	S531G	probably damaging	Het
Mcm2	A	G	6: 88,863,941 (GRCm39)		probably null	Het
Mtarc2	C	A	1: 184,551,539 (GRCm39)	R299L	probably damaging	Het
Myo9a	T	C	9: 59,775,482 (GRCm39)	F1031S	probably damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2n1d	C	T	17: 38,646,896 (GRCm39)	P283S	possibly damaging	Het
Pmfbp1	T	C	8: 110,246,839 (GRCm39)	V237A	possibly damaging	Het
Polrmt	C	A	10: 79,575,514 (GRCm39)	Q672H	probably damaging	Het
Pp2d1	T	C	17: 53,822,604 (GRCm39)	D154G	probably damaging	Het
Rars1	T	C	11: 35,724,010 (GRCm39)	I57V	probably benign	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Slc8b1	A	G	5: 120,662,082 (GRCm39)	E257G	probably damaging	Het
Spata31e3	G	A	13: 50,399,482 (GRCm39)	P948L	probably benign	Het
Tasor2	A	G	13: 3,640,519 (GRCm39)	V206A	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem87b	T	A	2: 128,666,385 (GRCm39)	H77Q	possibly damaging	Het
Tpr	C	T	1: 150,299,728 (GRCm39)	L1200F	probably damaging	Het
Trir	G	T	8: 85,756,549 (GRCm39)	V154L	probably damaging	Het
Wdfy3	A	G	5: 102,101,032 (GRCm39)	V195A	probably benign	Het
Zdhhc5	T	C	2: 84,526,685 (GRCm39)	I96V	probably benign	Het

Other mutations in Gm10912

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02588:Gm10912	APN	2	103,897,197 (GRCm39)	unclassified	probably benign
R0197:Gm10912	UTSW	2	103,896,875 (GRCm39)	missense	probably benign	0.09
R0511:Gm10912	UTSW	2	103,897,290 (GRCm39)	unclassified	probably benign
R0701:Gm10912	UTSW	2	103,896,875 (GRCm39)	missense	probably benign	0.09
R0883:Gm10912	UTSW	2	103,896,875 (GRCm39)	missense	probably benign	0.09
R5945:Gm10912	UTSW	2	103,896,961 (GRCm39)	missense	possibly damaging	0.83
R7022:Gm10912	UTSW	2	103,897,055 (GRCm39)	missense	probably damaging	0.97
R8789:Gm10912	UTSW	2	103,897,046 (GRCm39)	missense	possibly damaging	0.82
R9146:Gm10912	UTSW	2	103,897,053 (GRCm39)	missense	possibly damaging	0.46
X0027:Gm10912	UTSW	2	103,896,947 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGAGCCTGAAAGTGCACCAG -3'
(R):5'- CCCAGGTATAAGGTAGACTGTAAGTG -3'

Sequencing Primer
(F):5'- ACCAGTGGTGTTGGATTCTTGC -3'
(R):5'- AAGAGTCAGGGGCTGCTTCTC -3'

Posted On

2018-06-06