Mutagenetix > Incidental Mutation

Incidental Mutation 'R5727:Gm8122'

452573

Institutional Source

Beutler Lab

Gene Symbol

Gm8122

Ensembl Gene

ENSMUSG00000094784

Gene Name

predicted gene 8122

Synonyms

MMRRC Submission

043190-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5727 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

43087289-43092761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43091477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 97 (N97T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000165988
AA Change: N97T

SMART Domains

Protein: ENSMUSP00000131304
Gene: ENSMUSG00000094784
AA Change: N97T

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	2.1e-27	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	A	14: 29,712,838 (GRCm39)	L494M	probably benign	Het
Ahnak	G	T	19: 8,994,111 (GRCm39)	A5132S	probably damaging	Het
Cadps	G	A	14: 12,486,525 (GRCm38)	Q882*	probably null	Het
Cdhr2	G	A	13: 54,872,121 (GRCm39)	V662M	possibly damaging	Het
Cdyl2	T	A	8: 117,309,907 (GRCm39)	I350F	probably damaging	Het
Cfap44	T	G	16: 44,255,805 (GRCm39)	F966V	probably damaging	Het
Cpxm1	G	A	2: 130,232,883 (GRCm39)	R704*	probably null	Het
Dnah11	A	T	12: 118,090,841 (GRCm39)	F1034L	probably damaging	Het
Dpep2	A	G	8: 106,713,075 (GRCm39)	V440A	probably benign	Het
Ehmt2	A	T	17: 35,125,008 (GRCm39)	M11L	possibly damaging	Het
Eml2	C	T	7: 18,924,685 (GRCm39)	H185Y	probably damaging	Het
Gm10845	T	A	14: 80,100,770 (GRCm39)		noncoding transcript	Het
Gnb1	A	G	4: 155,639,559 (GRCm39)	T263A	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ier5l	A	G	2: 30,363,171 (GRCm39)	C285R	possibly damaging	Het
Kif21b	A	G	1: 136,097,747 (GRCm39)	N1336D	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lama1	A	G	17: 68,122,219 (GRCm39)	H2722R	possibly damaging	Het
Mdm2	A	G	10: 117,538,212 (GRCm39)	M13T	possibly damaging	Het
Micall1	T	A	15: 79,014,678 (GRCm39)	Y685N	possibly damaging	Het
Mthfd1l	T	G	10: 4,053,302 (GRCm39)	S884A	possibly damaging	Het
Nkiras2	A	G	11: 100,515,853 (GRCm39)	Y60C	probably damaging	Het
Oc90	T	G	15: 65,753,388 (GRCm39)	R342S	possibly damaging	Het
Or11h23	C	A	14: 50,947,817 (GRCm39)	T10K	possibly damaging	Het
Or1j4	T	C	2: 36,740,544 (GRCm39)	L162P	possibly damaging	Het
Or4k35	T	A	2: 111,100,197 (GRCm39)	R172*	probably null	Het
Or4p20	T	A	2: 88,253,791 (GRCm39)	I193F	probably benign	Het
Or9s13	A	G	1: 92,547,900 (GRCm39)	N91D	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp9	G	T	16: 35,784,467 (GRCm39)	E507*	probably null	Het
Pex13	A	G	11: 23,605,705 (GRCm39)	I175T	probably benign	Het
Phf12	A	G	11: 77,914,370 (GRCm39)	E604G	probably damaging	Het
Ppfia4	A	T	1: 134,251,815 (GRCm39)		probably null	Het
Rragc	T	C	4: 123,813,828 (GRCm39)	Y141H	possibly damaging	Het
Slc35g3	A	G	11: 69,651,280 (GRCm39)	V257A	probably benign	Het
Snx5	T	C	2: 144,102,674 (GRCm39)	T80A	probably benign	Het
Sorcs2	G	A	5: 36,188,630 (GRCm39)	A826V	possibly damaging	Het
Sptb	G	A	12: 76,669,888 (GRCm39)	A480V	probably benign	Het
Tmem161b	T	A	13: 84,434,909 (GRCm39)	S302R	possibly damaging	Het
Ube2o	A	T	11: 116,430,496 (GRCm39)	F1081I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,608 (GRCm39)	I658V	probably benign	Het
Vwa3b	T	G	1: 37,174,600 (GRCm39)	L672V	probably benign	Het
Wscd2	T	C	5: 113,715,411 (GRCm39)	F417S	possibly damaging	Het

Other mutations in Gm8122

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01519:Gm8122	APN	14	43,092,696 (GRCm39)	missense	unknown
IGL01767:Gm8122	APN	14	43,090,158 (GRCm39)	missense	unknown
IGL02503:Gm8122	APN	14	43,092,645 (GRCm39)	missense	unknown
IGL03266:Gm8122	APN	14	43,090,116 (GRCm39)	missense	unknown
R4394:Gm8122	UTSW	14	43,091,525 (GRCm39)	missense	unknown
R4915:Gm8122	UTSW	14	43,091,573 (GRCm39)	missense	unknown
R4918:Gm8122	UTSW	14	43,091,573 (GRCm39)	missense	unknown
R7349:Gm8122	UTSW	14	43,088,058 (GRCm39)	critical splice acceptor site	probably null
R7350:Gm8122	UTSW	14	43,088,058 (GRCm39)	critical splice acceptor site	probably null
R8220:Gm8122	UTSW	14	43,090,174 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGTGCCTGTGACCCCATC -3'
(R):5'- ACAAAGCATGGTTTCCCTTTCC -3'

Sequencing Primer
(F):5'- ATCTCACTCCTATCTGAACTTGAAG -3'
(R):5'- CCTGCCCTATTATCTCTACAAGG -3'

Posted On

2017-01-03