Mutagenetix > Incidental Mutation

Incidental Mutation 'R4435:Gm5849'

329473

Institutional Source

Beutler Lab

Gene Symbol

Gm5849

Ensembl Gene

ENSMUSG00000096621

Gene Name

predicted gene 5849

Synonyms

MMRRC Submission

041149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R4435 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

90683126-90685187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90685182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1 (K1M)

Ref Sequence

ENSEMBL: ENSMUSP00000137232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180151]

AlphaFold

J3QPE5

Predicted Effect

probably null
Transcript: ENSMUST00000180151
AA Change: K1M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137232
Gene: ENSMUSG00000096621
AA Change: K1M

Domain	Start	End	E-Value	Type
Pfam:S_100	4	47	1.3e-20	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,822,900 (GRCm39)	S523L	probably damaging	Het
Arap1	C	A	7: 101,039,461 (GRCm39)	R574S	possibly damaging	Het
Arhgap25	T	C	6: 87,439,920 (GRCm39)	I576V	possibly damaging	Het
Ascc3	T	A	10: 50,597,981 (GRCm39)	V1283D	probably benign	Het
Asnsd1	A	T	1: 53,387,232 (GRCm39)		probably null	Het
Asrgl1	C	T	19: 9,096,563 (GRCm39)	V125I	probably damaging	Het
Bccip	A	G	7: 133,320,942 (GRCm39)	R239G	probably benign	Het
Cdyl	T	C	13: 36,042,233 (GRCm39)		probably null	Het
Cyfip1	T	C	7: 55,549,789 (GRCm39)	I650T	probably damaging	Het
Dennd4c	C	A	4: 86,716,312 (GRCm39)	Q506K	probably benign	Het
Fam135b	T	C	15: 71,320,588 (GRCm39)	D1313G	probably damaging	Het
Fam169a	A	G	13: 97,263,248 (GRCm39)	D567G	probably damaging	Het
Gm5134	T	G	10: 75,831,658 (GRCm39)	S366A	probably damaging	Het
Gpn3	A	G	5: 122,520,115 (GRCm39)	D223G	probably benign	Het
Hk1	A	G	10: 62,111,623 (GRCm39)	Y713H	probably damaging	Het
Ifih1	A	G	2: 62,476,234 (GRCm39)	L14P	probably damaging	Het
Kmt2c	A	T	5: 25,519,875 (GRCm39)	N2078K	possibly damaging	Het
Maf	T	A	8: 116,433,592 (GRCm39)	E4V	unknown	Het
Mbtd1	T	A	11: 93,823,048 (GRCm39)	D489E	probably benign	Het
Myrip	C	T	9: 120,164,680 (GRCm39)		probably benign	Het
Nedd4l	A	G	18: 65,345,896 (GRCm39)	D816G	possibly damaging	Het
Nwd1	T	C	8: 73,414,764 (GRCm39)	V934A	possibly damaging	Het
Or2a12	T	A	6: 42,905,023 (GRCm39)	I286N	probably damaging	Het
Or5ae1	A	G	7: 84,565,229 (GRCm39)	M81V	probably benign	Het
Psd	A	T	19: 46,302,933 (GRCm39)	I158N	probably damaging	Het
Ptprq	A	G	10: 107,520,916 (GRCm39)	V752A	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Senp2	T	A	16: 21,832,991 (GRCm39)	V93E	possibly damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Slc38a4	T	C	15: 96,906,899 (GRCm39)	S280G	probably benign	Het
Sos2	T	C	12: 69,661,473 (GRCm39)	E666G	possibly damaging	Het
Strip2	T	C	6: 29,925,049 (GRCm39)	V129A	probably benign	Het
Tsc2	G	A	17: 24,818,687 (GRCm39)	P1450L	probably benign	Het
Ttn	T	C	2: 76,747,219 (GRCm39)	E4610G	probably benign	Het
Uimc1	T	C	13: 55,223,636 (GRCm39)	E212G	probably damaging	Het
Zc3h18	T	C	8: 123,140,691 (GRCm39)		probably null	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	Het

Other mutations in Gm5849

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02989:Gm5849	APN	3	90,685,107 (GRCm39)	missense	probably damaging	1.00
IGL03196:Gm5849	APN	3	90,685,089 (GRCm39)	missense	probably damaging	1.00
R4434:Gm5849	UTSW	3	90,685,182 (GRCm39)	missense	probably null	0.98
R4438:Gm5849	UTSW	3	90,685,182 (GRCm39)	missense	probably null	0.98
R8266:Gm5849	UTSW	3	90,685,158 (GRCm39)	missense	probably damaging	1.00
R9037:Gm5849	UTSW	3	90,685,155 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCATCTATGTGGAAGATGCAG -3'
(R):5'- GTGTGACAGAATGGTTCCCAAC -3'

Sequencing Primer
(F):5'- GTGGAAGATGCAGGAATTTTATCCC -3'
(R):5'- AACCAAGTGACACACTGTCTTTTC -3'

Posted On

2015-07-21