Mutagenetix > Incidental Mutation

Incidental Mutation 'R2188:Gm5134'

237932

Institutional Source

Beutler Lab

Gene Symbol

Gm5134

Ensembl Gene

ENSMUSG00000033255

Gene Name

predicted gene 5134

Synonyms

MMRRC Submission

040190-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R2188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75954514-76009591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75995836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 370 (S370P)

Ref Sequence

ENSEMBL: ENSMUSP00000097172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099577]

AlphaFold

E9QAB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099577
AA Change: S370P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: S370P

Domain	Start	End	E-Value	Type
Pfam:SSF	32	466	2.9e-119	PFAM
transmembrane domain	500	522	N/A	INTRINSIC
transmembrane domain	651	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134234

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,002,533	L547P	probably damaging	Het
Arhgap29	A	C	3: 121,991,009	D195A	probably damaging	Het
Atad3a	A	T	4: 155,751,519	I274N	probably damaging	Het
C130060K24Rik	C	A	6: 65,441,276	H143N	probably damaging	Het
Ccdc12	G	T	9: 110,656,631	K23N	possibly damaging	Het
Ccpg1	A	G	9: 73,013,106	T668A	probably benign	Het
Cdc34b	T	C	11: 94,742,172	I66T	probably benign	Het
Dnah1	A	G	14: 31,279,164	I2408T	probably damaging	Het
Fam91a1	A	C	15: 58,430,663	N284T	probably damaging	Het
Gbp2b	A	T	3: 142,608,279	E440V	probably benign	Het
Hmcn2	G	A	2: 31,419,935	A3238T	probably benign	Het
Hmg20a	A	G	9: 56,477,300	E118G	possibly damaging	Het
Kdm5a	T	A	6: 120,406,640	F781I	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kmt2d	A	G	15: 98,839,300		probably benign	Het
Lrp1b	T	C	2: 41,408,959	T857A	probably benign	Het
Mucl2	T	A	15: 103,897,574	N39I	probably damaging	Het
Myl6	A	G	10: 128,492,697	I27T	possibly damaging	Het
Ndor1	A	T	2: 25,251,753		probably null	Het
Nlrp9a	A	G	7: 26,564,929	E758G	probably damaging	Het
Olfr52	A	T	2: 86,181,436	I225N	probably damaging	Het
Olfr652	G	A	7: 104,564,676	A152T	probably benign	Het
Parp3	G	A	9: 106,475,852	R42W	probably damaging	Het
Pik3c2g	A	G	6: 139,852,874	I495V	probably damaging	Het
Sdsl	C	T	5: 120,458,420	G310S	probably damaging	Het
Sec24a	A	G	11: 51,723,584	L531P	probably damaging	Het
Slc2a12	C	T	10: 22,664,837	S197F	probably benign	Het
Snapc1	T	A	12: 73,970,227	I213N	probably damaging	Het
Srpk1	A	T	17: 28,594,189	I527N	probably damaging	Het
Ssfa2	T	C	2: 79,644,923	S409P	probably benign	Het
Steap2	G	T	5: 5,673,643	Y412*	probably null	Het
Tbk1	A	C	10: 121,563,931	Y329*	probably null	Het
Tekt5	T	C	16: 10,358,325	E452G	probably damaging	Het
Tmc5	G	T	7: 118,654,955	C672F	probably damaging	Het
Trim27	T	C	13: 21,183,817	L201S	probably damaging	Het
Vil1	A	C	1: 74,427,565	D638A	probably benign	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Zfp583	C	T	7: 6,317,611	R134H	probably benign	Het

Other mutations in Gm5134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Gm5134	APN	10	76000421	missense	possibly damaging	0.70
IGL01371:Gm5134	APN	10	76004747	missense	probably damaging	0.99
IGL02140:Gm5134	APN	10	75986111	missense	probably benign	0.03
IGL02197:Gm5134	APN	10	75954702	critical splice donor site	probably null
IGL02233:Gm5134	APN	10	76008500	critical splice acceptor site	probably null
IGL02612:Gm5134	APN	10	75992489	missense	probably damaging	1.00
IGL02896:Gm5134	APN	10	75974224	missense	possibly damaging	0.82
R0021:Gm5134	UTSW	10	75993884	missense	probably damaging	1.00
R0021:Gm5134	UTSW	10	75993884	missense	probably damaging	1.00
R0035:Gm5134	UTSW	10	75993864	missense	probably benign	0.01
R0035:Gm5134	UTSW	10	75993864	missense	probably benign	0.01
R0110:Gm5134	UTSW	10	75974245	missense	probably benign	0.03
R0499:Gm5134	UTSW	10	75992525	missense	probably benign	0.00
R0510:Gm5134	UTSW	10	75974245	missense	probably benign	0.03
R1429:Gm5134	UTSW	10	75978381	missense	probably damaging	1.00
R1726:Gm5134	UTSW	10	75992527	missense	possibly damaging	0.83
R1918:Gm5134	UTSW	10	75976346	missense	possibly damaging	0.70
R1956:Gm5134	UTSW	10	76004846	missense	possibly damaging	0.89
R1993:Gm5134	UTSW	10	75966393	missense	probably damaging	0.96
R2049:Gm5134	UTSW	10	76004884	missense	possibly damaging	0.92
R3551:Gm5134	UTSW	10	76000447	missense	probably benign	0.08
R4074:Gm5134	UTSW	10	76008531	missense	probably damaging	1.00
R4435:Gm5134	UTSW	10	75995824	missense	probably damaging	1.00
R4466:Gm5134	UTSW	10	76008575	missense	probably benign	0.00
R5180:Gm5134	UTSW	10	75976366	missense	probably damaging	1.00
R5446:Gm5134	UTSW	10	75995836	missense	probably damaging	1.00
R5601:Gm5134	UTSW	10	75985952	missense	probably damaging	0.98
R5627:Gm5134	UTSW	10	75986108	missense	possibly damaging	0.93
R5777:Gm5134	UTSW	10	76004760	missense	probably benign	0.00
R5867:Gm5134	UTSW	10	76008616	missense	probably benign	0.00
R6145:Gm5134	UTSW	10	75995839	missense	probably damaging	0.99
R6232:Gm5134	UTSW	10	75986025	missense	possibly damaging	0.95
R6271:Gm5134	UTSW	10	75995809	missense	probably benign	0.32
R6329:Gm5134	UTSW	10	75954660	missense	possibly damaging	0.68
R6723:Gm5134	UTSW	10	76008619	missense	probably benign
R7049:Gm5134	UTSW	10	75992458	missense	probably damaging	0.97
R7305:Gm5134	UTSW	10	76000399	missense	probably damaging	1.00
R7579:Gm5134	UTSW	10	75964437	missense	probably damaging	1.00
R9190:Gm5134	UTSW	10	76008811	missense	probably damaging	1.00
X0050:Gm5134	UTSW	10	75992510	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGATTCCACTCCAGGTTTG -3'
(R):5'- GCGCCTTACATTATCATCGC -3'

Sequencing Primer
(F):5'- ACTCCAGGTTTGTCCAGGCTG -3'
(R):5'- GCCTTACATTATCATCGCAAAACTTC -3'

Posted On

2014-10-02