Mutagenetix > Incidental Mutation

Incidental Mutation 'R9064:Gm4841'

689178

Institutional Source

Beutler Lab

Gene Symbol

Gm4841

Ensembl Gene

ENSMUSG00000068606

Gene Name

predicted gene 4841

Synonyms

MMRRC Submission

068889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9064 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60401373-60406339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60403961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 44 (E44G)

Ref Sequence

ENSEMBL: ENSMUSP00000087727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090260]

AlphaFold

E9QAA8

Predicted Effect

probably benign
Transcript: ENSMUST00000090260
AA Change: E44G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000087727
Gene: ENSMUSG00000068606
AA Change: E44G

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	409	1.2e-129	PFAM
Pfam:MMR_HSR1	72	185	2.2e-11	PFAM
Pfam:Roc	72	188	1.9e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,463,510 (GRCm39)	E598G	probably benign	Het
Adgrb3	T	C	1: 25,570,965 (GRCm39)	E504G	possibly damaging	Het
Ank3	T	C	10: 69,822,185 (GRCm39)	S285P		Het
Ankrd28	G	A	14: 31,454,005 (GRCm39)	H410Y	probably damaging	Het
Armh1	C	A	4: 117,094,855 (GRCm39)	V62L	probably benign	Het
Atp8b1	A	G	18: 64,697,491 (GRCm39)	I451T	probably benign	Het
C2cd3	A	G	7: 100,059,608 (GRCm39)	D245G		Het
Calr3	T	C	8: 73,188,674 (GRCm39)	K151R	possibly damaging	Het
Cenpq	G	A	17: 41,243,731 (GRCm39)	T39I	probably benign	Het
Cep126	T	C	9: 8,103,341 (GRCm39)	D223G	possibly damaging	Het
Chd2	A	T	7: 73,143,279 (GRCm39)	I538K	possibly damaging	Het
Cyp3a41b	C	T	5: 145,514,910 (GRCm39)	R105Q	probably damaging	Het
Dnah6	C	A	6: 73,126,156 (GRCm39)	R1327L	probably benign	Het
Exd2	T	C	12: 80,531,148 (GRCm39)		probably null	Het
Fam118a	T	C	15: 84,930,039 (GRCm39)	V89A	probably damaging	Het
Fbxo40	A	T	16: 36,791,002 (GRCm39)	I36K	probably damaging	Het
Fntb	A	G	12: 76,934,640 (GRCm39)	N170S	probably benign	Het
Frzb	A	G	2: 80,277,052 (GRCm39)	S45P	probably benign	Het
Hecw2	C	A	1: 53,866,045 (GRCm39)	A1539S	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kcnh5	A	T	12: 75,177,727 (GRCm39)	C126*	probably null	Het
Kdm5a	TAGAAGAAG	TAGAAG	6: 120,403,869 (GRCm39)		probably benign	Het
Kremen2	A	G	17: 23,961,736 (GRCm39)	L257P	possibly damaging	Het
Mcat	A	C	15: 83,432,134 (GRCm39)	F245V	probably damaging	Het
Mdm2	T	C	10: 117,538,235 (GRCm39)	I54M	probably benign	Het
Muc4	A	G	16: 32,754,397 (GRCm38)	T1424A	possibly damaging	Het
Mylk3	T	C	8: 86,081,940 (GRCm39)	T416A	probably benign	Het
Nol4	T	A	18: 22,903,850 (GRCm39)	D156V		Het
Nxpe4	T	C	9: 48,309,964 (GRCm39)	V409A	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	G	T	11: 58,899,935 (GRCm39)	T966K		Het
Or10j3b	C	T	1: 173,044,060 (GRCm39)	L281F	possibly damaging	Het
Or10w1	G	A	19: 13,632,719 (GRCm39)	V309M	possibly damaging	Het
Or14c42-ps1	A	G	7: 86,211,371 (GRCm39)	T144A	unknown	Het
Phip	C	T	9: 82,753,540 (GRCm39)	V1735I	probably benign	Het
Pkhd1l1	A	T	15: 44,426,038 (GRCm39)	T3200S	possibly damaging	Het
Prdm4	T	C	10: 85,737,678 (GRCm39)	N496S	probably damaging	Het
Proser1	C	T	3: 53,384,927 (GRCm39)	L270F	probably damaging	Het
Psmd11	T	C	11: 80,336,069 (GRCm39)	V107A	probably damaging	Het
Rassf10	A	T	7: 112,554,315 (GRCm39)	E305D	probably benign	Het
Rbm45	T	C	2: 76,202,446 (GRCm39)	I123T	probably damaging	Het
Rpp25	G	T	9: 57,411,635 (GRCm39)	R39L	probably damaging	Het
Rreb1	A	G	13: 38,115,326 (GRCm39)	N895S	possibly damaging	Het
Sirpa	A	T	2: 129,458,460 (GRCm39)	S359C	possibly damaging	Het
Slc26a9	T	A	1: 131,680,703 (GRCm39)	C83S	probably benign	Het
Spink5	T	G	18: 44,100,193 (GRCm39)	L70R	probably damaging	Het
Stil	T	G	4: 114,898,932 (GRCm39)	N1187K	probably benign	Het
Sucla2	A	T	14: 73,828,303 (GRCm39)	E303D	probably benign	Het
Supt3	G	A	17: 45,305,295 (GRCm39)		probably null	Het
Tmc5	G	T	7: 118,233,270 (GRCm39)	S28I	probably benign	Het
Vps8	T	C	16: 21,288,979 (GRCm39)	V444A	probably damaging	Het

Other mutations in Gm4841

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Gm4841	APN	18	60,403,124 (GRCm39)	missense	probably damaging	1.00
IGL02043:Gm4841	APN	18	60,404,037 (GRCm39)	missense	probably benign	0.05
IGL02751:Gm4841	APN	18	60,404,093 (GRCm39)	utr 5 prime	probably benign
R0277:Gm4841	UTSW	18	60,403,718 (GRCm39)	missense	possibly damaging	0.83
R0323:Gm4841	UTSW	18	60,403,718 (GRCm39)	missense	possibly damaging	0.83
R0616:Gm4841	UTSW	18	60,404,009 (GRCm39)	missense	probably benign	0.00
R0882:Gm4841	UTSW	18	60,402,852 (GRCm39)	missense	possibly damaging	0.92
R1778:Gm4841	UTSW	18	60,404,020 (GRCm39)	nonsense	probably null
R2035:Gm4841	UTSW	18	60,402,929 (GRCm39)	missense	probably benign	0.29
R2513:Gm4841	UTSW	18	60,403,977 (GRCm39)	missense	probably damaging	1.00
R4242:Gm4841	UTSW	18	60,403,755 (GRCm39)	missense	probably benign	0.05
R4295:Gm4841	UTSW	18	60,403,262 (GRCm39)	missense	probably benign	0.01
R4574:Gm4841	UTSW	18	60,402,998 (GRCm39)	missense	probably benign	0.02
R4720:Gm4841	UTSW	18	60,403,135 (GRCm39)	missense	probably benign	0.00
R5273:Gm4841	UTSW	18	60,403,815 (GRCm39)	missense	probably benign	0.00
R5314:Gm4841	UTSW	18	60,403,364 (GRCm39)	missense	probably benign	0.13
R5378:Gm4841	UTSW	18	60,404,113 (GRCm39)	critical splice acceptor site	probably null
R5902:Gm4841	UTSW	18	60,403,868 (GRCm39)	missense	probably damaging	1.00
R5908:Gm4841	UTSW	18	60,403,506 (GRCm39)	missense	possibly damaging	0.89
R6361:Gm4841	UTSW	18	60,403,832 (GRCm39)	missense	probably damaging	1.00
R6677:Gm4841	UTSW	18	60,403,652 (GRCm39)	missense	probably damaging	1.00
R8155:Gm4841	UTSW	18	60,403,409 (GRCm39)	missense	probably damaging	0.97
R8334:Gm4841	UTSW	18	60,404,054 (GRCm39)	missense	probably benign	0.00
R9026:Gm4841	UTSW	18	60,403,988 (GRCm39)	missense	probably damaging	1.00
R9284:Gm4841	UTSW	18	60,403,895 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGTGTTTGTATGAAGACACC -3'
(R):5'- GAGAAGCACAAAGGCATTTTCAATC -3'

Sequencing Primer
(F):5'- GTCACCCCCACTTCAGCTG -3'
(R):5'- GCACAAAGGCATTTTCAATCTTTTGC -3'

Posted On

2021-11-19