Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Gm8909'

45305

Institutional Source

Beutler Lab

Gene Symbol

Gm8909

Ensembl Gene

ENSMUSG00000073402

Gene Name

predicted gene 8909

Synonyms

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36164443-36168537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36168057 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 100 (P100Q)

Ref Sequence

ENSEMBL: ENSMUSP00000094947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040467] [ENSMUST00000097335] [ENSMUST00000173353]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040467
AA Change: P72Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: P72Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	26	204	5.9e-96	PFAM
IGc1	223	294	8.23e-23	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000090537

SMART Domains

Protein: ENSMUSP00000088025
Gene: ENSMUSG00000038311

Domain	Start	End	E-Value	Type
SCOP:d2sqca2	105	173	2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097335
AA Change: P100Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: P100Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	54	232	7.3e-96	PFAM
IGc1	251	322	8.23e-23	SMART
transmembrane domain	338	360	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173353
AA Change: P100Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: P100Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	54	232	3.9e-93	PFAM
IGc1	251	322	8.23e-23	SMART
transmembrane domain	338	360	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174693

Meta Mutation Damage Score

0.6396

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Gm8909

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Gm8909	APN	17	36165354	critical splice donor site	probably null
IGL00534:Gm8909	APN	17	36168129	missense	probably damaging	1.00
IGL02312:Gm8909	APN	17	36165407	missense	probably benign	0.01
IGL03346:Gm8909	APN	17	36168109	missense	probably damaging	1.00
H8441:Gm8909	UTSW	17	36167982	missense	possibly damaging	0.84
R0005:Gm8909	UTSW	17	36162192	unclassified	probably benign
R0078:Gm8909	UTSW	17	36165461	missense	possibly damaging	0.95
R0211:Gm8909	UTSW	17	36168007	missense	probably damaging	1.00
R0211:Gm8909	UTSW	17	36168007	missense	probably damaging	1.00
R0233:Gm8909	UTSW	17	36167469	missense	probably benign	0.42
R0233:Gm8909	UTSW	17	36167469	missense	probably benign	0.42
R0670:Gm8909	UTSW	17	36168098	missense	possibly damaging	0.74
R1718:Gm8909	UTSW	17	36161784	unclassified	probably benign
R1937:Gm8909	UTSW	17	36168007	missense	probably damaging	1.00
R2571:Gm8909	UTSW	17	36167661	missense	possibly damaging	0.66
R4393:Gm8909	UTSW	17	36161969	unclassified	probably benign
R4396:Gm8909	UTSW	17	36161969	unclassified	probably benign
R4409:Gm8909	UTSW	17	36165850	missense	possibly damaging	0.53
R4505:Gm8909	UTSW	17	36161480	unclassified	probably benign
R4506:Gm8909	UTSW	17	36161480	unclassified	probably benign
R4507:Gm8909	UTSW	17	36161480	unclassified	probably benign
R4579:Gm8909	UTSW	17	36161757	unclassified	probably benign
R4684:Gm8909	UTSW	17	36165858	missense	possibly damaging	0.90
R4740:Gm8909	UTSW	17	36167556	missense	probably damaging	1.00
R5087:Gm8909	UTSW	17	36165416	nonsense	probably null
R5103:Gm8909	UTSW	17	36161685	unclassified	probably benign
R5275:Gm8909	UTSW	17	36161675	unclassified	probably null
R5425:Gm8909	UTSW	17	36168485	missense	probably damaging	1.00
R6155:Gm8909	UTSW	17	36167507	missense	possibly damaging	0.93
R6727:Gm8909	UTSW	17	36165730	missense	probably damaging	1.00
R6852:Gm8909	UTSW	17	36168073	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GTTCTGCTCCCGAACCTAGACTTG -3'
(R):5'- ACACTCGATGCGGTATTTCACCAC -3'

Sequencing Primer
(F):5'- CGAACCTAGACTTGGGACTG -3'
(R):5'- GGTATTTCACCACCGCAGTG -3'

Posted On

2013-06-11