Mutagenetix > Incidental Mutation

Incidental Mutation 'R2762:Gm9923'

254106

Institutional Source

Beutler Lab

Gene Symbol

Gm9923

Ensembl Gene

ENSMUSG00000053830

Gene Name

predicted pseudogene 9923

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R2762 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

72145151-72146986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72145460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 104 (H104N)

Ref Sequence

ENSEMBL: ENSMUSP00000135902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061324]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061324
AA Change: H104N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135902
Gene: ENSMUSG00000019977
AA Change: H104N

Domain	Start	End	E-Value	Type
Pfam:HBS1_N	10	125	1.5e-22	PFAM
low complexity region	311	331	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217785

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,748,984 (GRCm39)	T288S	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Baiap3	A	G	17: 25,463,549 (GRCm39)	L909P	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
Dusp3	T	C	11: 101,865,661 (GRCm39)	T178A	probably benign	Het
En2	T	C	5: 28,375,419 (GRCm39)	S321P	probably damaging	Het
Ext1	G	A	15: 53,208,323 (GRCm39)	S146L	probably benign	Het
Igtp	A	G	11: 58,096,891 (GRCm39)	M21V	possibly damaging	Het
Irs2	T	C	8: 11,056,408 (GRCm39)	S675G	probably damaging	Het
Klhl36	T	A	8: 120,596,713 (GRCm39)	L138Q	probably damaging	Het
Kmt2d	T	C	15: 98,749,936 (GRCm39)		probably benign	Het
Nox3	A	G	17: 3,746,433 (GRCm39)	V35A	probably benign	Het
Osbpl1a	T	C	18: 12,899,956 (GRCm39)	D274G	possibly damaging	Het
Plec	C	T	15: 76,056,486 (GRCm39)	G4349S	probably damaging	Het
Ppip5k2	A	C	1: 97,645,234 (GRCm39)	S1073R	probably damaging	Het
Prkcq	A	G	2: 11,237,451 (GRCm39)	K77E	possibly damaging	Het
Prss1	T	C	6: 41,440,215 (GRCm39)	V184A	possibly damaging	Het
Rnf111	T	A	9: 70,383,327 (GRCm39)	H202L	possibly damaging	Het
S100pbp	G	A	4: 129,049,219 (GRCm39)	R308*	probably null	Het
Sgcb	A	T	5: 73,793,052 (GRCm39)		probably null	Het
Spam1	T	C	6: 24,796,642 (GRCm39)	F198L	possibly damaging	Het
Tbc1d4	A	C	14: 101,731,797 (GRCm39)	C472G	probably damaging	Het
Tonsl	T	C	15: 76,514,820 (GRCm39)	N1128S	probably damaging	Het
Ttn	C	T	2: 76,628,447 (GRCm39)	R14571Q	probably damaging	Het
Tubb4a	T	A	17: 57,387,974 (GRCm39)	T351S	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Wasl	T	C	6: 24,619,500 (GRCm39)	Y340C	unknown	Het

Other mutations in Gm9923

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1797:Gm9923	UTSW	10	72,145,593 (GRCm39)	missense	probably benign	0.18
R1956:Gm9923	UTSW	10	72,145,490 (GRCm39)	missense	probably benign	0.01
R2764:Gm9923	UTSW	10	72,145,460 (GRCm39)	missense	probably benign	0.00
R4684:Gm9923	UTSW	10	72,145,306 (GRCm39)	nonsense	probably null
R4729:Gm9923	UTSW	10	72,145,524 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTTCATTTACTCACGCCGTG -3'
(R):5'- TCAAAAGGTTTGCTACTGCTATCC -3'

Sequencing Primer
(F):5'- TTTACTCACGCCGTGACAAC -3'
(R):5'- GGTTTGCTACTGCTATCCAAATG -3'

Posted On

2014-12-04