Mutagenetix > Incidental Mutation

Incidental Mutation 'BB002:Gm8126'

642185

Institutional Source

Beutler Lab

Gene Symbol

Gm8126

Ensembl Gene

ENSMUSG00000090634

Gene Name

predicted gene 8126

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

BB002

Quality Score

88.0076

Status

Not validated

Chromosome

Chromosomal Location

43116106-43124256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43119023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 164 (N164S)

Ref Sequence

ENSEMBL: ENSMUSP00000132242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169587]

AlphaFold

E9Q1N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000169587
AA Change: N164S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132242
Gene: ENSMUSG00000090634
AA Change: N164S

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1.5e-34	PFAM
coiled coil region	148	177	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,643,506 (GRCm39)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,071,327 (GRCm39)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 64,170,392 (GRCm39)	V132E	unknown	Het
Abcc2	A	G	19: 43,795,551 (GRCm39)	I436V	probably benign	Het
Ahr	G	A	12: 35,565,067 (GRCm39)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,723 (GRCm39)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,547,628 (GRCm39)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,319,969 (GRCm39)	M468T	possibly damaging	Het
Brca1	A	G	11: 101,398,972 (GRCm39)	I1540T	probably benign	Het
Ccn5	G	C	2: 163,670,961 (GRCm39)	R156T	possibly damaging	Het
Cdh20	A	T	1: 104,912,473 (GRCm39)	I576F	probably damaging	Het
Chst11	T	A	10: 83,026,788 (GRCm39)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,303,533 (GRCm39)	K65N	probably damaging	Het
Cldn22	T	C	8: 48,278,222 (GRCm39)	I220T	probably benign	Het
Coasy	T	G	11: 100,974,522 (GRCm39)	D229E	probably benign	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Cpn2	G	T	16: 30,079,619 (GRCm39)	D27E	probably damaging	Het
F5	T	A	1: 164,003,935 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,942,656 (GRCm39)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 26,035,880 (GRCm39)	N159S	probably benign	Het
Fhad1	A	G	4: 141,681,498 (GRCm39)	I514T	probably damaging	Het
Fras1	A	G	5: 96,929,443 (GRCm39)	K3949R	probably damaging	Het
Grm3	T	A	5: 9,639,880 (GRCm39)	E55V	probably benign	Het
Itgbl1	G	A	14: 124,210,735 (GRCm39)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,282,247 (GRCm39)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc28	T	C	7: 67,268,857 (GRCm39)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,606,706 (GRCm39)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,765,835 (GRCm39)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,296,894 (GRCm39)	E45V	probably damaging	Het
Mgam	C	T	6: 40,735,985 (GRCm39)	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,388,091 (GRCm39)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm39)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,150,011 (GRCm39)	N539K	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Opalin	T	A	19: 41,052,242 (GRCm39)	*144C	probably null	Het
Or1e28-ps1	A	G	11: 73,615,362 (GRCm39)	S163P	unknown	Het
Or1l8	A	G	2: 36,817,371 (GRCm39)	F252L	possibly damaging	Het
Or4f4-ps1	A	G	2: 111,330,166 (GRCm39)	S190G	probably damaging	Het
Or9g4	T	C	2: 85,504,907 (GRCm39)	E196G		Het
Pgam2	T	A	11: 5,753,007 (GRCm39)	H196L	possibly damaging	Het
Prrc2b	A	G	2: 32,094,127 (GRCm39)	E503G	probably damaging	Het
Prss45	T	C	9: 110,670,103 (GRCm39)	L304P	unknown	Het
Rbm20	T	A	19: 53,801,753 (GRCm39)	V87D	probably damaging	Het
Rskr	T	C	11: 78,182,449 (GRCm39)	L86P	probably damaging	Het
Serpinb8	T	C	1: 107,526,715 (GRCm39)	L85S	probably benign	Het
Sh2b2	A	T	5: 136,253,115 (GRCm39)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,403,056 (GRCm39)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,082,545 (GRCm39)	V31M	probably damaging	Het
Snx10	T	C	6: 51,557,301 (GRCm39)	S78P	probably benign	Het
Stard10	T	C	7: 100,991,838 (GRCm39)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm39)	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,749,627 (GRCm39)	D301G	probably null	Het
Ube3c	T	A	5: 29,851,429 (GRCm39)	I752N	probably damaging	Het
Wwc1	T	C	11: 35,734,990 (GRCm39)	M962V	probably benign	Het

Other mutations in Gm8126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02538:Gm8126	APN	14	43,117,047 (GRCm39)	missense	probably benign	0.43
R4773:Gm8126	UTSW	14	43,119,072 (GRCm39)	nonsense	probably null
R5009:Gm8126	UTSW	14	43,119,065 (GRCm39)	missense	probably benign
R5020:Gm8126	UTSW	14	43,119,026 (GRCm39)	missense	probably damaging	1.00
R7059:Gm8126	UTSW	14	43,118,975 (GRCm39)	missense	probably benign	0.01
R7925:Gm8126	UTSW	14	43,119,023 (GRCm39)	missense	probably damaging	0.98
R9723:Gm8126	UTSW	14	43,119,141 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGGACCCTTGCAGGTATC -3'
(R):5'- CCTCCACAGAAAGCCTTGTAG -3'

Sequencing Primer
(F):5'- GGACCCTTGCAGGTATCATAGTAC -3'
(R):5'- TCCACAGAAAGCCTTGTAGATGATC -3'

Posted On

2020-08-01