Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:Gm7534'

45274

Institutional Source

Beutler Lab

Gene Symbol

Gm7534

Ensembl Gene

ENSMUSG00000073747

Gene Name

predicted gene 7534

Synonyms

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134190804-134203004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134202518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 159 (T159A)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097849]

AlphaFold

Q3UU21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097849
AA Change: T159A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: T159A

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
internal_repeat_1	21	111	5.47e-40	PROSPERO
low complexity region	112	143	N/A	INTRINSIC
low complexity region	158	177	N/A	INTRINSIC
internal_repeat_1	181	271	5.47e-40	PROSPERO
low complexity region	322	334	N/A	INTRINSIC
ZP	368	618	3.21e-13	SMART
low complexity region	650	668	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122228

Meta Mutation Damage Score

0.1795

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
Gm8909	G	T	17: 36,168,057	P100Q	probably 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 Gm7534

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Gm7534	APN	4	134201980	missense	probably benign	0.27
IGL03170:Gm7534	APN	4	134193034	missense	possibly damaging	0.57
FR4342:Gm7534	UTSW	4	134202631	small insertion	probably benign
FR4976:Gm7534	UTSW	4	134202630	small insertion	probably benign
R0487:Gm7534	UTSW	4	134202778	missense	probably damaging	0.97
R0530:Gm7534	UTSW	4	134202910	missense	probably benign
R1121:Gm7534	UTSW	4	134202937	missense	probably benign	0.00
R1458:Gm7534	UTSW	4	134196833	missense	probably benign	0.01
R1748:Gm7534	UTSW	4	134200299	missense	probably damaging	1.00
R1748:Gm7534	UTSW	4	134202119	missense	possibly damaging	0.57
R1913:Gm7534	UTSW	4	134192675	critical splice donor site	probably null
R2029:Gm7534	UTSW	4	134202358	missense	possibly damaging	0.87
R2069:Gm7534	UTSW	4	134201941	missense	possibly damaging	0.63
R2237:Gm7534	UTSW	4	134202205	missense	unknown
R2239:Gm7534	UTSW	4	134202205	missense	unknown
R3943:Gm7534	UTSW	4	134200345	missense	probably benign	0.15
R4646:Gm7534	UTSW	4	134202148	missense	probably benign	0.00
R4673:Gm7534	UTSW	4	134200347	missense	probably benign	0.01
R4838:Gm7534	UTSW	4	134193099	missense	probably benign	0.04
R5002:Gm7534	UTSW	4	134196920	missense	probably benign	0.09
R5593:Gm7534	UTSW	4	134193039	missense	probably damaging	0.99
R5606:Gm7534	UTSW	4	134200212	missense	probably benign	0.13
R6553:Gm7534	UTSW	4	134202056	missense	probably damaging	0.99
R6834:Gm7534	UTSW	4	134193165	missense	possibly damaging	0.95
R6931:Gm7534	UTSW	4	134193153	missense	probably benign	0.28
R7526:Gm7534	UTSW	4	134200073	splice site	probably null
R7771:Gm7534	UTSW	4	134195443	missense	probably benign	0.01
R8271:Gm7534	UTSW	4	134202967	missense	unknown
R8725:Gm7534	UTSW	4	134202839	missense	probably benign	0.19
R8727:Gm7534	UTSW	4	134202839	missense	probably benign	0.19
R8757:Gm7534	UTSW	4	134202971	missense	unknown
R8966:Gm7534	UTSW	4	134202401	missense	probably damaging	0.98
R8992:Gm7534	UTSW	4	134202667	missense	probably damaging	0.99
R9039:Gm7534	UTSW	4	134195547	missense	probably damaging	0.98
R9275:Gm7534	UTSW	4	134195459	missense	probably damaging	1.00
R9278:Gm7534	UTSW	4	134195459	missense	probably damaging	1.00
R9434:Gm7534	UTSW	4	134202242	missense	probably benign	0.01
R9458:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9460:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9461:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9480:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9481:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9551:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9552:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9553:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
RF015:Gm7534	UTSW	4	134193027	missense	probably benign
T0975:Gm7534	UTSW	4	134202629	small insertion	probably benign
Z1176:Gm7534	UTSW	4	134200338	missense	possibly damaging	0.90
Z1176:Gm7534	UTSW	4	134202677	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAGGGCTGTAGAATGGTCCGATG -3'
(R):5'- ACAATGAGTATGTCACCTGGCACAC -3'

Sequencing Primer
(F):5'- GCACAGTGGTCCTCAGATTAG -3'
(R):5'- CTGGCACACACCACAGC -3'

Posted On

2013-06-11