Mutagenetix > Incidental Mutation

Incidental Mutation 'R5230:Gm8104'

403734

Institutional Source

Beutler Lab

Gene Symbol

Gm8104

Ensembl Gene

ENSMUSG00000096446

Gene Name

predicted gene 8104

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5230 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

42958058-42972647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42958975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 55 (N55S)

Ref Sequence

ENSEMBL: ENSMUSP00000132509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168165]

AlphaFold

K7N744

Predicted Effect

probably damaging
Transcript: ENSMUST00000168165
AA Change: N55S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132509
Gene: ENSMUSG00000096446
AA Change: N55S

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	2.7e-27	PFAM
coiled coil region	148	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225570

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Abca5	A	T	11: 110,210,686 (GRCm39)	D164E	probably benign	Het
Adamts5	T	C	16: 85,666,956 (GRCm39)	D512G	probably damaging	Het
Ankrd11	G	A	8: 123,617,216 (GRCm39)	T2191I	probably benign	Het
Anxa3	T	C	5: 96,986,171 (GRCm39)	F270S	possibly damaging	Het
Bard1	A	G	1: 71,092,770 (GRCm39)		probably null	Het
Ccdc142	T	C	6: 83,084,777 (GRCm39)	V591A	probably damaging	Het
Col6a3	C	T	1: 90,716,776 (GRCm39)	E1613K	unknown	Het
Dnah9	T	A	11: 65,975,492 (GRCm39)	H1519L	probably damaging	Het
Egf	T	C	3: 129,511,673 (GRCm39)	D498G	possibly damaging	Het
Enah	A	C	1: 181,763,235 (GRCm39)		probably benign	Het
Fat3	A	T	9: 15,901,856 (GRCm39)	N3056K	possibly damaging	Het
Gm4846	T	A	1: 166,317,748 (GRCm39)	N223Y	probably benign	Het
Gpatch8	A	G	11: 102,370,404 (GRCm39)	S1045P	probably damaging	Het
Haus4	A	G	14: 54,781,251 (GRCm39)	M275T	probably benign	Het
Ighe	T	A	12: 113,235,006 (GRCm39)	T385S	unknown	Het
Ipo9	G	A	1: 135,347,808 (GRCm39)	S78L	probably damaging	Het
Kif21b	G	A	1: 136,099,411 (GRCm39)	V1473M	probably damaging	Het
Lama1	T	A	17: 68,052,078 (GRCm39)	Y345*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Loxl3	A	G	6: 83,012,775 (GRCm39)	T105A	probably benign	Het
Map4k3	A	G	17: 80,922,599 (GRCm39)	S441P	probably benign	Het
Med12l	C	T	3: 59,153,209 (GRCm39)	T1078I	probably damaging	Het
Mef2c	T	A	13: 83,801,026 (GRCm39)	M242K	possibly damaging	Het
Morc2b	A	G	17: 33,355,226 (GRCm39)	Y849H	probably benign	Het
Mroh2b	T	A	15: 4,971,004 (GRCm39)	V1003E	probably benign	Het
Myo15a	T	A	11: 60,393,674 (GRCm39)	M1135K	possibly damaging	Het
Nckap1l	A	T	15: 103,392,066 (GRCm39)	I834F	probably benign	Het
Nrg1	T	A	8: 32,308,507 (GRCm39)	Y503F	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4f61	A	T	2: 111,922,734 (GRCm39)	I104N	probably benign	Het
Pcdhga2	T	C	18: 37,802,795 (GRCm39)	V213A	probably benign	Het
Pdzd2	A	T	15: 12,390,119 (GRCm39)	M826K	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Rnf38	T	C	4: 44,149,176 (GRCm39)	Q57R	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpina6	T	C	12: 103,618,157 (GRCm39)	T219A	probably benign	Het
Spata31d1c	T	A	13: 65,183,248 (GRCm39)	N263K	probably benign	Het
Spef2	T	G	15: 9,667,316 (GRCm39)	I791L	possibly damaging	Het
Sv2a	T	C	3: 96,092,776 (GRCm39)	C159R	probably damaging	Het
Tbc1d31	T	A	15: 57,824,315 (GRCm39)	L859Q	probably damaging	Het
Tecta	C	A	9: 42,306,239 (GRCm39)	R63L	probably damaging	Het
Tex52	A	G	6: 128,361,779 (GRCm39)	E252G	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,608 (GRCm39)	I257V	possibly damaging	Het
Tpk1	A	G	6: 43,400,653 (GRCm39)	L172P	probably damaging	Het
Trim3	T	G	7: 105,268,720 (GRCm39)	N78T	possibly damaging	Het
Try5	A	G	6: 41,289,312 (GRCm39)	V88A	probably benign	Het
Vmn1r222	T	G	13: 23,417,172 (GRCm39)	M14L	probably benign	Het
Wdr90	A	T	17: 26,074,277 (GRCm39)	V678E	probably benign	Het
Zan	A	G	5: 137,452,340 (GRCm39)	L1543P	unknown	Het

Other mutations in Gm8104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01948:Gm8104	APN	14	42,966,607 (GRCm39)	missense	probably benign	0.00
FR4548:Gm8104	UTSW	14	42,967,468 (GRCm39)	missense	probably damaging	0.98
FR4548:Gm8104	UTSW	14	42,967,466 (GRCm39)	missense	probably benign	0.05
R1800:Gm8104	UTSW	14	42,959,028 (GRCm39)	missense	possibly damaging	0.75
R2194:Gm8104	UTSW	14	42,959,017 (GRCm39)	missense	possibly damaging	0.88
R4207:Gm8104	UTSW	14	42,959,091 (GRCm39)	missense	probably damaging	1.00
R5122:Gm8104	UTSW	14	42,966,550 (GRCm39)	missense	probably benign	0.00
R6339:Gm8104	UTSW	14	42,958,942 (GRCm39)	missense	probably benign	0.01
R7357:Gm8104	UTSW	14	42,959,068 (GRCm39)	missense	probably damaging	0.98
R7452:Gm8104	UTSW	14	42,967,501 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTATGGATTTCAGGGCAAGAGG -3'
(R):5'- GGACACAATGCAGTCAACAG -3'

Sequencing Primer
(F):5'- GACCAGCTCAAATATAGCCTTTCTG -3'
(R):5'- CAGAATACAGGGCATAATTTTACCTG -3'

Posted On

2016-07-22