Mutagenetix > Incidental Mutation

Incidental Mutation 'R3828:Gm17521'

273868

Institutional Source

Beutler Lab

Gene Symbol

Gm17521

Ensembl Gene

ENSMUSG00000094864

Gene Name

predicted gene, 17521

Synonyms

MMRRC Submission

040886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R3828 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

121938875-121939372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121938922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 149 (G149C)

Ref Sequence

ENSEMBL: ENSMUSP00000130606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165345]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000165345
AA Change: G149C

SMART Domains

Protein: ENSMUSP00000130606
Gene: ENSMUSG00000094864
AA Change: G149C

Domain	Start	End	E-Value	Type
low complexity region	117	123	N/A	INTRINSIC
low complexity region	144	155	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camk2b	A	G	11: 5,978,932 (GRCm39)	V32A	probably damaging	Het
Cbr2	A	T	11: 120,621,278 (GRCm39)	H140Q	probably benign	Het
Cdk19	T	C	10: 40,351,609 (GRCm39)	V258A	probably damaging	Het
Cep104	T	G	4: 154,069,400 (GRCm39)	M207R	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Cxcr6	A	T	9: 123,639,934 (GRCm39)	M319L	probably benign	Het
Dlg5	T	A	14: 24,196,226 (GRCm39)	K1308I	probably damaging	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gm5862	T	G	5: 26,224,345 (GRCm39)	H208P	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Ino80d	A	T	1: 63,101,237 (GRCm39)	M463K	possibly damaging	Het
Lrp2	G	A	2: 69,256,356 (GRCm39)	P4595S	probably benign	Het
Mark4	A	G	7: 19,177,112 (GRCm39)	I239T	possibly damaging	Het
Mcoln1	C	T	8: 3,550,601 (GRCm39)	A2V	possibly damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Mrgprb5	T	A	7: 47,817,839 (GRCm39)	M299L	probably benign	Het
Ncapg2	A	T	12: 116,370,938 (GRCm39)		probably benign	Het
Or56a3	A	G	7: 104,735,504 (GRCm39)	N194D	probably benign	Het
Pcdhga4	G	T	18: 37,820,654 (GRCm39)	L734F	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,584,083 (GRCm39)	N444S	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnks	A	G	8: 35,340,332 (GRCm39)	F429L	probably damaging	Het
Usp15	T	A	10: 123,032,775 (GRCm39)	I16F	possibly damaging	Het
Vps50	T	C	6: 3,533,500 (GRCm39)	I244T	probably benign	Het

Other mutations in Gm17521

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:Gm17521	UTSW	X	121,939,239 (GRCm39)	missense	probably benign	0.01
R3827:Gm17521	UTSW	X	121,938,922 (GRCm39)	missense	unknown
R3829:Gm17521	UTSW	X	121,938,922 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCAGATTTCATAGGGCACTTTGG -3'
(R):5'- TGGGACATTCCACATCTGCC -3'

Sequencing Primer
(F):5'- TTGTGAGAGGACTTAGCTCTATGCC -3'
(R):5'- ATCTGCCCACGCATCCG -3'

Posted On

2015-04-02