Mutagenetix > Incidental Mutation

Incidental Mutation 'R6398:Gm3233'

516072

Institutional Source

Beutler Lab

Gene Symbol

Gm3233

Ensembl Gene

ENSMUSG00000094120

Gene Name

predicted gene 3233

Synonyms

MMRRC Submission

044381-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6398 (G1)

Quality Score

116.008

Status

Not validated

Chromosome

Chromosomal Location

77594824-77595516 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 77595249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000168997]

AlphaFold

E9Q2H5

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: ENSMUST00000168997
AA Change: Q90K

SMART Domains

Protein: ENSMUSP00000129915
Gene: ENSMUSG00000094120
AA Change: Q90K

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	22	66	4.4e-10	PFAM
Pfam:Keratin_B2_2	66	121	4e-7	PFAM
Pfam:Keratin_B2_2	108	157	1.5e-7	PFAM
Pfam:Keratin_B2_2	153	198	2.6e-6	PFAM
Pfam:Keratin_B2_2	182	230	2.3e-3	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	T	A	4: 126,342,601 (GRCm39)	Q514L	probably benign	Het
Alpi	G	C	1: 87,027,184 (GRCm39)	T365S	probably damaging	Het
Cbx4	A	T	11: 118,971,908 (GRCm39)	V489E	probably damaging	Het
Ccdc162	T	C	10: 41,503,145 (GRCm39)	D999G	probably damaging	Het
Clspn	A	G	4: 126,457,740 (GRCm39)	E88G	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddx1	A	T	12: 13,295,721 (GRCm39)	I33N	probably damaging	Het
Diaph3	G	A	14: 87,103,922 (GRCm39)	L821F	probably damaging	Het
Duox2	C	T	2: 122,126,851 (GRCm39)	M221I	probably benign	Het
Gm15130	A	T	2: 110,965,787 (GRCm39)	M154K	unknown	Het
Heg1	A	C	16: 33,587,145 (GRCm39)	I1327L	probably damaging	Het
Ifnar1	G	A	16: 91,302,303 (GRCm39)		probably null	Het
Itpr1	C	T	6: 108,482,864 (GRCm39)	L2310F	probably damaging	Het
Or5b98	T	C	19: 12,931,681 (GRCm39)	S243P	probably damaging	Het
Pcdhb7	A	G	18: 37,476,487 (GRCm39)	N541S	possibly damaging	Het
Prelp	A	G	1: 133,842,479 (GRCm39)	L222P	probably damaging	Het
Prl8a8	A	G	13: 27,692,412 (GRCm39)	I193T	probably damaging	Het
Prpf4b	G	T	13: 35,084,354 (GRCm39)	R914L	probably damaging	Het
Ptbp2	G	C	3: 119,514,484 (GRCm39)	Q448E	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc9a9	A	T	9: 94,552,280 (GRCm39)	M56L	probably benign	Het
Slfn4	A	G	11: 83,078,000 (GRCm39)	I263V	possibly damaging	Het
Taar2	A	G	10: 23,817,177 (GRCm39)	N239S	probably benign	Het
Trrap	T	A	5: 144,727,680 (GRCm39)	I467N	possibly damaging	Het
Ttc28	T	C	5: 111,424,142 (GRCm39)	Y1439H	probably damaging	Het
Usp34	A	G	11: 23,438,666 (GRCm39)	I3409M	probably benign	Het
Zbbx	G	T	3: 74,985,872 (GRCm39)	N388K	probably damaging	Het
Znhit2	A	G	19: 6,112,287 (GRCm39)	N344S	probably damaging	Het

Other mutations in Gm3233

Allele	Source	Chr	Coord	Type	Predicted Effect
R4612:Gm3233	UTSW	10	77,595,498 (GRCm39)	intron	probably benign
R4959:Gm3233	UTSW	10	77,595,399 (GRCm39)	intron	probably benign
R6495:Gm3233	UTSW	10	77,594,886 (GRCm39)	intron	probably benign
R6958:Gm3233	UTSW	10	77,595,369 (GRCm39)	intron	probably benign
R9732:Gm3233	UTSW	10	77,595,147 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGCAGCTGGACTTCTGTC -3'
(R):5'- GCTCTGATGCTCTCACCAAC -3'

Sequencing Primer
(F):5'- ACTTCTGTCCACAGCAGGC -3'
(R):5'- ATGACTGCCCAGAGAGCTG -3'

Posted On

2018-05-04