Mutagenetix > Incidental Mutations

Incidental Mutation 'R2107:Gm9611'

232198

Institutional Source

Beutler Lab

Gene Symbol

Gm9611

Ensembl Gene

ENSMUSG00000095371

Gene Name

predicted gene 9611

Synonyms

MMRRC Submission

040111-MU

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R2107 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

42291907-42297358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42294654 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 42 (N42K)

Ref Sequence

ENSEMBL: ENSMUSP00000098263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100698]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100698
AA Change: N42K

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098263
Gene: ENSMUSG00000095371
AA Change: N42K

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	32	8.2e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000169972
AA Change: N146K

SMART Domains

Protein: ENSMUSP00000129118
Gene: ENSMUSG00000095371
AA Change: N146K

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	2.9e-26	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,795,732	L364Q	probably damaging	Het
9030624J02Rik	T	C	7: 118,794,539		probably benign	Het
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Ace2	A	G	X: 164,140,732	N24S	probably benign	Het
Acp2	G	A	2: 91,203,595		probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Bcas3	G	A	11: 85,457,878	V199I	probably damaging	Het
Cblb	T	A	16: 52,152,716		probably null	Het
Ccdc88c	G	T	12: 100,921,549	D1557E	probably benign	Het
Cdc20	T	C	4: 118,433,513	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,353,246	D350N	probably benign	Het
Cgrrf1	T	A	14: 46,853,376		probably benign	Het
Chia1	T	A	3: 106,128,840	Y185*	probably null	Het
Cmtm8	A	T	9: 114,796,108	V85D	possibly damaging	Het
Cplx4	A	G	18: 65,956,893	S152P	probably benign	Het
Crmp1	G	T	5: 37,242,494	R117L	probably benign	Het
Csad	G	C	15: 102,179,034	L365V	probably null	Het
Dyrk1a	C	T	16: 94,686,527	T532M	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam208a	T	A	14: 27,461,787		probably null	Het
Fan1	T	G	7: 64,366,788	R529S	probably damaging	Het
Fbln5	A	G	12: 101,771,269	W173R	probably damaging	Het
Gnal	T	A	18: 67,213,578	L257Q	probably damaging	Het
Hint3	A	T	10: 30,618,256	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,890,501	S403P	probably benign	Het
Kmt2c	T	C	5: 25,309,824	N3007S	probably benign	Het
Kpna3	T	C	14: 61,370,484	D424G	possibly damaging	Het
Krt90	A	G	15: 101,562,629	I66T	probably benign	Het
Lamc2	A	G	1: 153,154,386		probably benign	Het
Lmtk3	G	T	7: 45,793,969	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,062,361	M269T	probably benign	Het
Lrrc19	T	A	4: 94,639,294	T227S	probably benign	Het
Lrrk1	C	A	7: 66,279,282	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,759	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310	W346R	probably damaging	Het
Mpo	T	C	11: 87,796,075	Y177H	probably damaging	Het
Mprip	A	G	11: 59,769,891	K2166R	probably damaging	Het
Myo15	T	C	11: 60,491,810	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,338,979	C12*	probably null	Het
Neu1	G	A	17: 34,934,398	R299Q	probably benign	Het
Nisch	C	T	14: 31,172,140	V172I	probably damaging	Het
Npy2r	A	T	3: 82,541,129		probably null	Het
Ogg1	C	A	6: 113,329,293	N150K	probably damaging	Het
Olfr350	C	A	2: 36,850,343	A99E	possibly damaging	Het
Olfr59	T	C	11: 74,289,390	V248A	probably damaging	Het
Olfr818	A	G	10: 129,945,712	S2P	probably damaging	Het
Pck1	G	C	2: 173,154,068	E120Q	probably benign	Het
Pde11a	A	G	2: 76,337,922	V229A	probably damaging	Het
Pias2	T	C	18: 77,097,471	F83L	probably benign	Het
Plagl1	A	C	10: 13,128,647		probably benign	Het
Plin3	A	T	17: 56,284,391	S130T	probably benign	Het
Rcc2	A	G	4: 140,721,185	Y515C	probably damaging	Het
Rgs12	A	G	5: 34,966,735	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,211,281	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,415,562	T335N	probably damaging	Het
Scn8a	A	T	15: 101,018,363	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,625,826	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,230,987	V363D	probably damaging	Het
Smap1	A	T	1: 23,848,454	M248K	possibly damaging	Het
Sp1	A	G	15: 102,409,678		probably null	Het
Tbc1d1	T	G	5: 64,284,705	N689K	probably benign	Het
Tff2	T	C	17: 31,142,282	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,280,544	N239D	possibly damaging	Het
Trim37	G	A	11: 87,159,825	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,302	M2090T	probably benign	Het
Unc13a	T	C	8: 71,656,251		probably null	Het
Usp43	GC	G	11: 67,855,740		probably null	Het
Utrn	C	A	10: 12,436,364	D616Y	probably damaging	Het
Vav2	T	C	2: 27,267,303	E829G	probably damaging	Het
Zfp26	A	T	9: 20,442,237	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593	F1484I	possibly damaging	Het

Other mutations in Gm9611

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Gm9611	APN	14	42294665	missense	possibly damaging	0.92
PIT4431001:Gm9611	UTSW	14	42293931	missense
R7947:Gm9611	UTSW	14	42296130	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGAAAGGACAGTGGCTTG -3'
(R):5'- CACCAAGTGGAACCGGTAAC -3'

Sequencing Primer
(F):5'- CAGTCTCTTCACACTTAGTCAAAATG -3'
(R):5'- AGTGCATGATTCAGCTTGAATTG -3'

Posted On

2014-09-18