Mutagenetix > Incidental Mutation

Incidental Mutation 'R6016:Gm3250'

478605

Institutional Source

Beutler Lab

Gene Symbol

Gm3250

Ensembl Gene

ENSMUSG00000096481

Gene Name

predicted gene 3250

Synonyms

MMRRC Submission

043255-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R6016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77617684-77618376 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 77618367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000167358] [ENSMUST00000180161]

AlphaFold

E9Q1M3

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000167358
AA Change: S4P

SMART Domains

Protein: ENSMUSP00000132276
Gene: ENSMUSG00000096481
AA Change: S4P

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	22	66	2e-10	PFAM
Pfam:Keratin_B2_2	67	117	3.1e-8	PFAM
Pfam:Keratin_B2_2	108	158	1.5e-6	PFAM
Pfam:Keratin_B2_2	153	198	3.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180161

SMART Domains

Protein: ENSMUSP00000136480
Gene: ENSMUSG00000095721

Domain	Start	End	E-Value	Type
low complexity region	23	64	N/A	INTRINSIC
Pfam:Keratin_B2_2	114	162	5.3e-8	PFAM
Pfam:Keratin_B2_2	189	236	2.4e-3	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	C	15: 77,620,058 (GRCm39)	S285P	probably damaging	Het
Casz1	C	A	4: 149,019,041 (GRCm39)	N447K	probably damaging	Het
Cltb	T	C	13: 54,754,480 (GRCm39)	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267 (GRCm39)	F93L	probably damaging	Het
Dnah5	T	C	15: 28,328,030 (GRCm39)	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,288,568 (GRCm39)	R191W	probably damaging	Het
Gm17067	G	T	7: 42,357,654 (GRCm39)	P283T	probably benign	Het
Gne	T	C	4: 44,039,063 (GRCm39)	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,740,261 (GRCm39)	D86A	probably benign	Het
Hs3st2	A	G	7: 121,099,922 (GRCm39)	H256R	probably damaging	Het
Il19	T	A	1: 130,863,718 (GRCm39)	D16V	probably damaging	Het
Lats2	A	T	14: 57,971,632 (GRCm39)	N14K	probably damaging	Het
Mill2	G	T	7: 18,590,373 (GRCm39)	S151I	probably benign	Het
Ncapg2	G	A	12: 116,390,227 (GRCm39)	R392H	probably damaging	Het
Nop56	T	C	2: 130,118,545 (GRCm39)		probably null	Het
Or14j8	A	T	17: 38,262,967 (GRCm39)	V316D	probably benign	Het
Or2bd2	A	T	7: 6,443,613 (GRCm39)	H238L	probably benign	Het
Or5p5	A	T	7: 107,414,219 (GRCm39)	I143F	probably benign	Het
Pde1a	T	C	2: 79,695,406 (GRCm39)	R446G	probably benign	Het
Pes1	T	A	11: 3,928,004 (GRCm39)	M552K	possibly damaging	Het
Plxnb2	T	A	15: 89,045,225 (GRCm39)	T1074S	possibly damaging	Het
Psg23	G	T	7: 18,346,112 (GRCm39)	H194Q	probably benign	Het
Rprd2	A	G	3: 95,694,685 (GRCm39)	V116A	probably damaging	Het
Shkbp1	A	G	7: 27,053,826 (GRCm39)	V124A	possibly damaging	Het
Slc38a8	A	T	8: 120,221,044 (GRCm39)		probably null	Het
Slitrk6	A	G	14: 110,987,958 (GRCm39)	V583A	probably benign	Het
Sptbn5	G	T	2: 119,880,573 (GRCm39)		noncoding transcript	Het
Stab1	A	T	14: 30,880,950 (GRCm39)	I614N	probably damaging	Het
Tgm6	A	G	2: 129,983,148 (GRCm39)	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,734 (GRCm39)	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,461,272 (GRCm39)	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,453 (GRCm39)	I610K	probably damaging	Het

Other mutations in Gm3250

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7050:Gm3250	UTSW	10	77,617,814 (GRCm39)	missense	possibly damaging	0.73
R7291:Gm3250	UTSW	10	77,618,061 (GRCm39)	missense	unknown
R7354:Gm3250	UTSW	10	77,618,367 (GRCm39)	unclassified	probably benign
R8062:Gm3250	UTSW	10	77,618,234 (GRCm39)	missense	unknown
R8192:Gm3250	UTSW	10	77,618,291 (GRCm39)	missense	unknown
R9001:Gm3250	UTSW	10	77,618,178 (GRCm39)	missense	unknown
R9045:Gm3250	UTSW	10	77,617,932 (GRCm39)	missense	unknown
R9072:Gm3250	UTSW	10	77,618,127 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTGCAGCAGGAAGATTGGC -3'
(R):5'- GTTAATGACTGAGCCCTGCAG -3'

Sequencing Primer
(F):5'- CTCACTGGGGTGCAGACAAG -3'
(R):5'- TGCAGAGCATCCTCCAGACTG -3'

Posted On

2017-06-26