Mutagenetix > Incidental Mutation

Incidental Mutation 'R9464:Gm8267'

715087

Institutional Source

Beutler Lab

Gene Symbol

Gm8267

Ensembl Gene

ENSMUSG00000091923

Gene Name

predicted gene 8267

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9464 (G1)

Quality Score

93.0077

Status

Not validated

Chromosome

Chromosomal Location

44954624-44962444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44960346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 133 (E133G)

Ref Sequence

ENSEMBL: ENSMUSP00000129187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165003] [ENSMUST00000169062] [ENSMUST00000226900]

AlphaFold

E9Q207

Predicted Effect

probably damaging
Transcript: ENSMUST00000165003
AA Change: E133G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129187
Gene: ENSMUSG00000091923
AA Change: E133G

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	1.4e-28	PFAM
coiled coil region	144	175	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169062
AA Change: E133G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129402
Gene: ENSMUSG00000091923
AA Change: E133G

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	4.9e-37	PFAM
low complexity region	187	199	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226900
AA Change: E133G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,865 (GRCm39)	F45S	possibly damaging	Het
Abca4	A	G	3: 121,913,714 (GRCm39)	T897A	probably benign	Het
Abhd5	A	T	9: 122,208,029 (GRCm39)	T308S	probably benign	Het
Abi2	G	A	1: 60,478,100 (GRCm39)		probably null	Het
Abi3bp	C	A	16: 56,409,046 (GRCm39)	T283N	possibly damaging	Het
Adcy2	A	C	13: 68,882,776 (GRCm39)	N320K	probably damaging	Het
Adcy3	T	A	12: 4,256,939 (GRCm39)	M819K	probably benign	Het
Anapc5	A	G	5: 122,940,209 (GRCm39)	V354A	probably benign	Het
Card14	A	G	11: 119,208,031 (GRCm39)	I34V	probably benign	Het
Ccdc153	A	T	9: 44,157,011 (GRCm39)	T118S	possibly damaging	Het
Champ1	G	A	8: 13,929,114 (GRCm39)	G424D	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Ctsr	T	A	13: 61,307,295 (GRCm39)	I334F	possibly damaging	Het
Dlgap1	A	T	17: 70,823,964 (GRCm39)	Q316H	probably benign	Het
Dnajc18	A	C	18: 35,830,166 (GRCm39)	C80G	probably damaging	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fancc	T	C	13: 63,550,769 (GRCm39)	K18E	possibly damaging	Het
Fbxo46	G	C	7: 18,870,791 (GRCm39)	R470P	probably damaging	Het
Fbxw20	A	C	9: 109,050,399 (GRCm39)	W409G	probably damaging	Het
Gcnt4	C	T	13: 97,083,493 (GRCm39)	T263M	probably benign	Het
Gfy	T	C	7: 44,827,251 (GRCm39)	T282A	probably benign	Het
Glb1l3	A	G	9: 26,761,351 (GRCm39)	M227T	probably damaging	Het
Hmcn1	A	C	1: 150,599,248 (GRCm39)	I1556R	possibly damaging	Het
Ifnl3	T	C	7: 28,223,287 (GRCm39)	V102A	probably damaging	Het
Kifc3	C	T	8: 95,830,622 (GRCm39)	R548Q	possibly damaging	Het
Lonrf1	T	A	8: 36,690,024 (GRCm39)	Q678L	probably benign	Het
Map2	A	G	1: 66,454,497 (GRCm39)	E1129G	probably damaging	Het
Mug2	C	A	6: 122,028,690 (GRCm39)	D561E	probably benign	Het
Myo3a	G	T	2: 22,232,383 (GRCm39)		probably benign	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Nckap5	C	T	1: 125,952,494 (GRCm39)	G1353R	probably benign	Het
Nek10	T	A	14: 14,937,766 (GRCm38)	H828Q	probably benign	Het
Or52n3	T	A	7: 104,530,050 (GRCm39)	C45*	probably null	Het
Or5k1b	G	T	16: 58,581,202 (GRCm39)	C112*	probably null	Het
Pclo	T	C	5: 14,816,830 (GRCm39)	S1297P		Het
Pkhd1l1	T	C	15: 44,343,009 (GRCm39)	I162T	probably damaging	Het
Plaat5	A	G	19: 7,591,923 (GRCm39)	E113G	probably damaging	Het
Plekhg2	T	C	7: 28,062,297 (GRCm39)	E541G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,149 (GRCm39)	N220D	possibly damaging	Het
Prss3l	A	G	6: 41,420,486 (GRCm39)	V80A	probably benign	Het
Psmd4	A	G	3: 94,940,735 (GRCm39)	S343P	probably benign	Het
Rnf213	A	T	11: 119,354,406 (GRCm39)	H4063L		Het
Rnf40	T	C	7: 127,190,954 (GRCm39)	V313A	probably benign	Het
Ryr2	T	A	13: 11,752,680 (GRCm39)	E1880D	probably benign	Het
Slc30a4	A	T	2: 122,527,200 (GRCm39)	L398I	probably damaging	Het
Sp100	A	T	1: 85,624,751 (GRCm39)	N380I	probably damaging	Het
Speer4d	T	G	5: 15,828,393 (GRCm39)	L175W	probably damaging	Het
Srcap	T	A	7: 127,137,273 (GRCm39)	I985K	possibly damaging	Het
Tesk2	T	C	4: 116,658,443 (GRCm39)		probably null	Het
Tgfbrap1	A	G	1: 43,114,608 (GRCm39)	V164A	probably damaging	Het
Tlk1	T	C	2: 70,544,341 (GRCm39)	T765A	probably benign	Het
Tmem207	A	T	16: 26,345,413 (GRCm39)	C18S		Het
Tph2	A	T	10: 114,915,992 (GRCm39)	C394S	probably benign	Het
Trrap	C	A	5: 144,763,517 (GRCm39)	H2470N	probably damaging	Het
Ttc21b	T	C	2: 66,053,866 (GRCm39)	Y771C	probably damaging	Het
Uchl3	T	C	14: 101,904,451 (GRCm39)	F122L	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r117	G	T	17: 23,696,578 (GRCm39)	D276E	probably benign	Het
Vps13c	T	C	9: 67,858,674 (GRCm39)	L2708P	probably damaging	Het
Vwa3a	T	A	7: 120,385,682 (GRCm39)	S675T	possibly damaging	Het
Zfp473	A	G	7: 44,383,766 (GRCm39)	L189P	probably benign	Het
Zfp956	T	A	6: 47,941,041 (GRCm39)	C467S	probably damaging	Het
Zgrf1	T	A	3: 127,377,741 (GRCm39)	N995K	probably benign	Het

Other mutations in Gm8267

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Gm8267	APN	14	44,962,412 (GRCm39)	missense	probably damaging	0.98
IGL02031:Gm8267	APN	14	44,955,374 (GRCm39)	missense	possibly damaging	0.85
R3619:Gm8267	UTSW	14	44,961,513 (GRCm39)	missense	possibly damaging	0.95
R4715:Gm8267	UTSW	14	44,955,292 (GRCm39)	missense	probably benign	0.33
R6599:Gm8267	UTSW	14	44,955,367 (GRCm39)	missense	possibly damaging	0.86
R7001:Gm8267	UTSW	14	44,960,385 (GRCm39)	missense	possibly damaging	0.94
R7057:Gm8267	UTSW	14	44,959,481 (GRCm39)	missense	probably damaging	0.99
R7439:Gm8267	UTSW	14	44,960,397 (GRCm39)	missense	probably damaging	1.00
R7441:Gm8267	UTSW	14	44,960,397 (GRCm39)	missense	probably damaging	1.00
R8053:Gm8267	UTSW	14	44,962,307 (GRCm39)	missense	possibly damaging	0.82
R8313:Gm8267	UTSW	14	44,961,515 (GRCm39)	missense	probably damaging	0.97
R8721:Gm8267	UTSW	14	44,959,507 (GRCm39)	missense	possibly damaging	0.94
R9150:Gm8267	UTSW	14	44,955,362 (GRCm39)	missense	probably benign	0.18
Z1088:Gm8267	UTSW	14	44,962,322 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGGGTCTTGGACAATATTCACAC -3'
(R):5'- TGGGAATTCCAGATACCGCC -3'

Sequencing Primer
(F):5'- TTCACACTTAGGAAACCTGAGTC -3'
(R):5'- GGGAATTCCAGATACCGCCTTTTTG -3'

Posted On

2022-06-15