Mutagenetix > Incidental Mutation

Incidental Mutation 'R1014:Gm10300'

95985

Institutional Source

Beutler Lab

Gene Symbol

Gm10300

Ensembl Gene

ENSMUSG00000070717

Gene Name

predicted gene 10300

Synonyms

MMRRC Submission

039118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1014 (G1)

Quality Score

130

Status

Not validated

Chromosome

Chromosomal Location

131802008-131804303 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 131802023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000094662] [ENSMUST00000105970] [ENSMUST00000105975]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030739

SMART Domains

Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000094662
AA Change: T6A

SMART Domains

Protein: ENSMUSP00000092249
Gene: ENSMUSG00000070717
AA Change: T6A

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	53	65	N/A	INTRINSIC
low complexity region	144	157	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105970

SMART Domains

Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
B41	55	250	1.3e-80	SMART
FERM_C	254	344	1.01e-35	SMART
FA	347	393	8.99e-19	SMART
low complexity region	437	459	N/A	INTRINSIC
Pfam:SAB	476	524	1.1e-29	PFAM
Pfam:4_1_CTD	578	636	1.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105975

SMART Domains

Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	232	427	1.3e-80	SMART
FERM_C	431	521	1.01e-35	SMART
FA	524	570	8.99e-19	SMART
low complexity region	619	632	N/A	INTRINSIC
Pfam:SAB	672	720	3.9e-25	PFAM
Pfam:4_1_CTD	758	865	2.6e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146021

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	C	4: 126,400,578 (GRCm39)	R712G	probably damaging	Het
Arg1	C	A	10: 24,792,758 (GRCm39)	V159L	probably benign	Het
Caap1	C	T	4: 94,437,383 (GRCm39)	C193Y	probably benign	Het
Cdh12	A	T	15: 21,492,706 (GRCm39)	M242L	probably damaging	Het
Col19a1	A	T	1: 24,340,354 (GRCm39)		probably null	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,674 (GRCm39)	T101A	possibly damaging	Het
Dll4	T	C	2: 119,161,638 (GRCm39)	C407R	probably damaging	Het
Ebf4	T	C	2: 130,207,388 (GRCm39)	S484P	probably benign	Het
Lyst	T	C	13: 13,808,645 (GRCm39)	I105T	possibly damaging	Het
Mrgprx2	A	G	7: 48,132,306 (GRCm39)		probably null	Het
Musk	T	C	4: 58,354,156 (GRCm39)	L403P	possibly damaging	Het
Myh11	T	C	16: 14,054,274 (GRCm39)	K363R	possibly damaging	Het
Nadk2	T	C	15: 9,091,334 (GRCm39)	F202L	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup210l	C	T	3: 90,077,355 (GRCm39)	T897M	possibly damaging	Het
Or52h9	T	C	7: 104,202,383 (GRCm39)	W86R	probably damaging	Het
Pcdh17	A	G	14: 84,684,928 (GRCm39)	D465G	probably damaging	Het
Pcdhb11	T	A	18: 37,556,422 (GRCm39)	L584Q	probably damaging	Het
Pcdhb5	T	C	18: 37,455,303 (GRCm39)	L561P	probably damaging	Het
Pck2	A	G	14: 55,779,867 (GRCm39)	S12G	probably benign	Het
Pcsk1	A	G	13: 75,280,353 (GRCm39)	D726G	probably damaging	Het
Pcsk5	G	T	19: 17,542,194 (GRCm39)	A799E	probably damaging	Het
Pkp3	A	G	7: 140,662,739 (GRCm39)	Y117C	probably benign	Het
Poldip2	T	A	11: 78,405,988 (GRCm39)	D106E	probably damaging	Het
Ppm1d	C	A	11: 85,227,980 (GRCm39)	H299N	probably damaging	Het
Ptprz1	A	G	6: 23,000,643 (GRCm39)	Y911C	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rtf1	T	G	2: 119,550,727 (GRCm39)	S329A	possibly damaging	Het
Slc12a2	T	C	18: 58,054,882 (GRCm39)	I841T	probably benign	Het
Slc2a3	T	C	6: 122,708,525 (GRCm39)	I367V	possibly damaging	Het
Slc30a8	A	G	15: 52,194,993 (GRCm39)	T251A	probably damaging	Het
Spryd3	T	A	15: 102,041,966 (GRCm39)	N19Y	probably damaging	Het
Tll2	A	T	19: 41,092,290 (GRCm39)	Y516N	probably damaging	Het
Tlr5	G	A	1: 182,803,242 (GRCm39)	G849R	probably benign	Het
Wdr64	A	G	1: 175,583,192 (GRCm39)	E376G	probably damaging	Het
Zfp318	GAA	GAANAA	17: 46,723,462 (GRCm39)		probably null	Het

Other mutations in Gm10300

Allele	Source	Chr	Coord	Type	Predicted Effect
R0395:Gm10300	UTSW	4	131,802,299 (GRCm39)	intron	probably benign
R5809:Gm10300	UTSW	4	131,802,458 (GRCm39)	intron	probably benign
R6736:Gm10300	UTSW	4	131,802,246 (GRCm39)	intron	probably benign
R7270:Gm10300	UTSW	4	131,802,167 (GRCm39)	missense	unknown
R9749:Gm10300	UTSW	4	131,802,029 (GRCm39)	missense	unknown
Z1176:Gm10300	UTSW	4	131,802,120 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGCAGCTTGAAGACCAAGACAAC -3'
(R):5'- TTCTGGAGTCACAAAGTCGAGGGG -3'

Sequencing Primer
(F):5'- GACAACTCTTGAGGAAACACAG -3'
(R):5'- ACCTGGAGTCCTGTCGTG -3'

Posted On

2014-01-05