Mutagenetix > Incidental Mutation

Incidental Mutation 'R2475:Gm21136'

253338

Institutional Source

Beutler Lab

Gene Symbol

Gm21136

Ensembl Gene

ENSMUSG00000099981

Gene Name

predicted gene, 21136

Synonyms

MMRRC Submission

040406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R2475 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38563621-38567424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38567258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 57 (T57S)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031488
AA Change: T57S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031488
Gene: ENSMUSG00000094920
AA Change: T57S

Domain	Start	End	E-Value	Type
Pfam:DUF4629	426	526	7.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186812

Meta Mutation Damage Score

0.1087

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,442 (GRCm39)	M458K	probably benign	Het
Atic	C	T	1: 71,598,428 (GRCm39)	R64C	probably damaging	Het
Atp7b	C	T	8: 22,484,792 (GRCm39)	V1307M	possibly damaging	Het
Bbx	C	A	16: 50,040,882 (GRCm39)	R707L	probably damaging	Het
Ccdc28b	A	T	4: 129,514,445 (GRCm39)		probably null	Het
Gm5862	G	A	5: 26,224,490 (GRCm39)	L160F	probably damaging	Het
Gpsm3	A	G	17: 34,809,534 (GRCm39)	T47A	possibly damaging	Het
Grip1	T	C	10: 119,814,401 (GRCm39)	Y311H	probably benign	Het
Inpp4b	T	A	8: 82,768,607 (GRCm39)	N705K	probably benign	Het
Lingo1	T	A	9: 56,526,910 (GRCm39)	I560F	probably benign	Het
Man2b2	A	G	5: 36,965,219 (GRCm39)	V958A	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Nipbl	A	T	15: 8,364,490 (GRCm39)	C1305S	probably benign	Het
Or14j9	A	G	17: 37,874,602 (GRCm39)	V200A	probably benign	Het
Phf19	C	T	2: 34,785,807 (GRCm39)	R554Q	probably benign	Het
Pramel24	T	A	4: 143,453,395 (GRCm39)	Y168N	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Trpm8	A	G	1: 88,282,171 (GRCm39)	D689G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	G	2: 76,703,094 (GRCm39)		probably benign	Het
Wrnip1	G	A	13: 32,990,941 (GRCm39)	R400H	probably benign	Het

Other mutations in Gm21136

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5210:Gm21136	UTSW	7	38,567,165 (GRCm39)	exon	noncoding transcript
R5859:Gm21136	UTSW	7	38,567,165 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- ATTCCTGGAGTGCATCTTCC -3'
(R):5'- TGCTCCCCACAGTAACCTAG -3'

Sequencing Primer
(F):5'- GAGTGCATCTTCCCTTCCATGAG -3'
(R):5'- TAGAAAACATCAACCTCACCATTTTC -3'

Posted On

2014-12-04