Mutagenetix > Incidental Mutation

Incidental Mutation 'R3885:Gm5145'

308733

Institutional Source

Beutler Lab

Gene Symbol

Gm5145

Ensembl Gene

ENSMUSG00000071273

Gene Name

predicted pseudogene 5145

Synonyms

MMRRC Submission

040905-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R3885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20790631-20791460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20791272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 217 (T217S)

Ref Sequence

ENSEMBL: ENSMUSP00000093293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095633] [ENSMUST00000169559]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095633
AA Change: T217S

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093293
Gene: ENSMUSG00000071273
AA Change: T217S

Domain	Start	End	E-Value	Type
RRM	17	84	5.29e-5	SMART
low complexity region	101	113	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC
low complexity region	160	175	N/A	INTRINSIC
low complexity region	179	199	N/A	INTRINSIC
RRM	207	274	1.55e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169559

SMART Domains

Protein: ENSMUSP00000129347
Gene: ENSMUSG00000091259

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	83	467	3.1e-33	PFAM
Pfam:NCD3G	510	563	5.2e-22	PFAM
Pfam:7tm_3	594	831	4.2e-51	PFAM

Meta Mutation Damage Score

0.1510

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak8	G	A	2: 28,623,897 (GRCm39)	V161I	possibly damaging	Het
Ank3	A	T	10: 69,734,866 (GRCm39)	I792F	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Boc	T	C	16: 44,307,976 (GRCm39)		probably benign	Het
Bptf	G	A	11: 106,965,339 (GRCm39)	T1170M	probably damaging	Het
Ccdc85a	T	A	11: 28,526,677 (GRCm39)	E310D	probably benign	Het
Cfap221	A	G	1: 119,881,876 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Eif2ak1	A	T	5: 143,821,479 (GRCm39)	Q265L	probably benign	Het
Eif2s1	T	A	12: 78,927,999 (GRCm39)	I225N	probably damaging	Het
Ephb2	C	T	4: 136,498,345 (GRCm39)	G245S	probably damaging	Het
Exoc4	T	C	6: 33,243,066 (GRCm39)		probably null	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Gck	T	C	11: 5,860,318 (GRCm39)	Y108C	probably damaging	Het
Gjc3	T	A	5: 137,956,105 (GRCm39)	N60I	possibly damaging	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
Gpr150	T	C	13: 76,204,657 (GRCm39)	Q96R	probably damaging	Het
H2ac22	A	G	13: 21,971,039 (GRCm39)	L117P	probably damaging	Het
H2ac8	G	T	13: 23,755,053 (GRCm39)	T77K	possibly damaging	Het
Itga2	A	T	13: 115,005,835 (GRCm39)	H448Q	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lrch2	C	G	X: 146,256,003 (GRCm39)	A437P	probably damaging	Het
Lrriq1	T	C	10: 103,051,967 (GRCm39)	I262V	probably damaging	Het
Mgst3	G	T	1: 167,200,131 (GRCm39)	Q135K	probably benign	Het
Nrxn1	T	A	17: 90,930,899 (GRCm39)	T766S	probably damaging	Het
Or11j4	A	T	14: 50,630,326 (GRCm39)	I38F	probably benign	Het
Ovch2	A	G	7: 107,395,775 (GRCm39)	I81T	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rictor	A	T	15: 6,789,091 (GRCm39)	N236Y	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Senp7	A	G	16: 56,006,442 (GRCm39)	E922G	probably damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Steap4	G	T	5: 8,030,494 (GRCm39)	R450L	probably damaging	Het
Usp40	A	T	1: 87,894,991 (GRCm39)	L843Q	probably damaging	Het
Vmn2r97	C	T	17: 19,148,596 (GRCm39)	L164F	possibly damaging	Het
Wiz	G	T	17: 32,576,012 (GRCm39)	A798E	possibly damaging	Het

Other mutations in Gm5145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02350:Gm5145	APN	17	20,790,702 (GRCm39)	missense	probably damaging	1.00
IGL02357:Gm5145	APN	17	20,790,702 (GRCm39)	missense	probably damaging	1.00
IGL02587:Gm5145	APN	17	20,791,452 (GRCm39)	missense	probably damaging	1.00
R3159:Gm5145	UTSW	17	20,791,155 (GRCm39)	missense	probably benign	0.00
R4151:Gm5145	UTSW	17	20,791,360 (GRCm39)	missense	probably damaging	1.00
R4583:Gm5145	UTSW	17	20,790,715 (GRCm39)	missense	probably benign	0.02
R4798:Gm5145	UTSW	17	20,790,810 (GRCm39)	missense	probably damaging	1.00
R7147:Gm5145	UTSW	17	20,791,323 (GRCm39)	missense	probably damaging	1.00
R7297:Gm5145	UTSW	17	20,790,993 (GRCm39)	missense	probably benign	0.00
R7627:Gm5145	UTSW	17	20,790,654 (GRCm39)	nonsense	probably null
R7670:Gm5145	UTSW	17	20,790,646 (GRCm39)	missense	probably benign	0.09
R7897:Gm5145	UTSW	17	20,790,967 (GRCm39)	missense	probably benign
R7901:Gm5145	UTSW	17	20,790,900 (GRCm39)	missense	possibly damaging	0.86
R8336:Gm5145	UTSW	17	20,790,687 (GRCm39)	missense	probably damaging	1.00
R8492:Gm5145	UTSW	17	20,790,681 (GRCm39)	missense	probably damaging	1.00
R9030:Gm5145	UTSW	17	20,791,270 (GRCm39)	missense	probably benign	0.41
R9053:Gm5145	UTSW	17	20,791,194 (GRCm39)	missense	probably damaging	1.00
R9362:Gm5145	UTSW	17	20,791,342 (GRCm39)	missense	probably damaging	0.99
Z1177:Gm5145	UTSW	17	20,791,314 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCACACGCTAGGACAGTCTC -3'
(R):5'- TACTCCATAGGGAAAGGCGCTAC -3'

Sequencing Primer
(F):5'- GCTAGGACAGTCTCCCTACATG -3'
(R):5'- GCTACTTCTTGGCCAAAGAGATC -3'

Posted On

2015-04-17