Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Srrt'

285586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srrt

Ensembl Gene

ENSMUSG00000037364

Gene Name

serrate RNA effector molecule homolog (Arabidopsis)

Synonyms

2810019G02Rik, Asr2, Ars2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

137295704-137307674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137296274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 790 (T790M)

Ref Sequence

ENSEMBL: ENSMUSP00000143232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000196109] [ENSMUST00000196208] [ENSMUST00000199243] [ENSMUST00000197466] [ENSMUST00000198526]

AlphaFold

Q99MR6

Predicted Effect

probably benign
Transcript: ENSMUST00000024099

SMART Domains

Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328

Domain	Start	End	E-Value	Type
Pfam:COesterase	14	563	2e-186	PFAM
Pfam:Abhydrolase_3	146	276	7.5e-9	PFAM
Pfam:AChE_tetra	578	614	3.2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000040873
AA Change: T790M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: T790M

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	153	262	3.8e-44	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	326	350	N/A	INTRINSIC
coiled coil region	367	402	N/A	INTRINSIC
Blast:RRM	421	491	2e-31	BLAST
low complexity region	566	595	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
Pfam:ARS2	645	850	9.7e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052825

SMART Domains

Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C78	27	212	5.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085934

SMART Domains

Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328

Domain	Start	End	E-Value	Type
Pfam:COesterase	15	563	3e-178	PFAM
Pfam:Abhydrolase_3	146	260	1.4e-7	PFAM
Pfam:AChE_tetra	578	613	3.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184197

Predicted Effect

probably damaging
Transcript: ENSMUST00000196109
AA Change: T432M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364
AA Change: T432M

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
Blast:RRM	65	133	2e-15	BLAST
low complexity region	208	237	N/A	INTRINSIC
low complexity region	245	257	N/A	INTRINSIC
Pfam:ARS2	277	498	6.5e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196208

SMART Domains

Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328

Domain	Start	End	E-Value	Type
Pfam:COesterase	14	359	6.5e-134	PFAM
Pfam:Abhydrolase_3	146	284	4.1e-7	PFAM
Pfam:COesterase	355	475	1.5e-25	PFAM
Pfam:AChE_tetra	490	526	2.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196576

Predicted Effect

probably damaging
Transcript: ENSMUST00000199243
AA Change: T790M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: T790M

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	151	264	9.5e-48	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	326	350	N/A	INTRINSIC
coiled coil region	367	402	N/A	INTRINSIC
Blast:RRM	421	491	2e-31	BLAST
low complexity region	566	595	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
Pfam:ARS2	635	849	9.8e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197466
AA Change: T786M

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: T786M

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	151	264	9.5e-48	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	326	350	N/A	INTRINSIC
coiled coil region	367	402	N/A	INTRINSIC
Blast:RRM	421	491	2e-31	BLAST
low complexity region	566	595	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
Pfam:ARS2	635	845	5.5e-113	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000199756
AA Change: T208M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197376

Predicted Effect

probably benign
Transcript: ENSMUST00000199365

Predicted Effect

probably benign
Transcript: ENSMUST00000199605

Predicted Effect

probably benign
Transcript: ENSMUST00000223263

Predicted Effect

probably benign
Transcript: ENSMUST00000198526

SMART Domains

Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	151	264	2e-45	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	369	408	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,982,950	N152D	possibly damaging	Het
Acsl1	A	G	8: 46,534,365	E662G	probably benign	Het
Acss3	A	G	10: 107,045,335	S262P	probably benign	Het
Agap1	T	C	1: 89,663,775	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,473,404	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,926,152	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,562,190	H485N	probably benign	Het
Atrip	A	G	9: 109,061,664	S91P	possibly damaging	Het
Bcorl1	T	C	X: 48,369,360	V590A	probably benign	Het
Brf1	C	A	12: 112,961,774	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,148,922	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,256,452	V163A	probably damaging	Het
Cct6b	T	C	11: 82,741,391	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,424	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,629,586	V434I	probably benign	Het
Cltc	C	T	11: 86,697,340	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,051,263	F473L	probably benign	Het
Dock3	T	C	9: 107,062,055	K165E	probably damaging	Het
Duox2	A	T	2: 122,285,153		probably benign	Het
Epha7	A	G	4: 28,821,587	S251G	possibly damaging	Het
Epn1	T	A	7: 5,095,036	V282E	probably benign	Het
Fat1	T	C	8: 45,023,659	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,256,367	I611T	possibly damaging	Het
Fgd6	G	T	10: 94,134,084	M1198I	probably damaging	Het
Frmpd4	T	A	X: 167,492,935	I379F	probably damaging	Het
Gm6614	A	T	6: 141,993,675	C197*	probably null	Het
Grk4	T	A	5: 34,694,782	D123E	probably benign	Het
Hc	T	G	2: 35,009,911		probably benign	Het
Hephl1	T	C	9: 15,069,793	Y781C	probably damaging	Het
Hfe	T	C	13: 23,706,943	E71G	probably benign	Het
Hk1	A	G	10: 62,281,140		probably benign	Het
Ifnk	G	A	4: 35,152,642		probably benign	Het
Kcnv1	C	A	15: 45,114,274	G123C	probably damaging	Het
Kdelc2	T	C	9: 53,388,479	L96S	probably damaging	Het
Klhl38	A	T	15: 58,323,237	I32N	possibly damaging	Het
Lpl	T	C	8: 68,895,800	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,953,857	S196C	probably damaging	Het
Mta1	T	C	12: 113,120,908	L91P	possibly damaging	Het
Nelfe	C	A	17: 34,854,354	D288E	probably benign	Het
Olfr491	T	A	7: 108,317,201	C102*	probably null	Het
Otof	T	C	5: 30,370,784	E1905G	probably damaging	Het
Pck2	T	C	14: 55,543,866	I148T	probably benign	Het
Plcl2	G	T	17: 50,606,397	V145F	probably damaging	Het
Plec	A	G	15: 76,172,274	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,752,089	E641G	probably damaging	Het
Ppp1r12a	C	T	10: 108,269,324	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,518,245	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,660,175		probably benign	Het
Psmb1	A	T	17: 15,490,284	M1K	probably null	Het
Pwwp2a	T	C	11: 43,705,621	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,672,753	R516W	probably damaging	Het
Rnf103	A	G	6: 71,510,188	D601G	probably benign	Het
Senp3	A	G	11: 69,674,530	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,315,683	T121P	probably damaging	Het
Ssc5d	T	C	7: 4,933,454		probably null	Het
Tas2r129	G	A	6: 132,951,394	W98*	probably null	Het
Thoc5	A	C	11: 4,926,217	M609L	probably benign	Het
Tnip1	G	A	11: 54,936,471	T155M	possibly damaging	Het
Ttn	A	G	2: 76,788,328	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,459,781	E61G	probably benign	Het
Usp32	T	C	11: 84,986,481	K151E	probably damaging	Het
Vmn2r121	T	C	X: 124,132,681	M260V	probably benign	Het
Vwa7	G	T	17: 35,020,084	R345L	probably damaging	Het
Zfp366	G	T	13: 99,234,188	R472L	possibly damaging	Het
Zfp811	A	T	17: 32,798,642	Y141*	probably null	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	Het

Other mutations in Srrt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Srrt	APN	5	137295978	unclassified	probably benign
IGL01062:Srrt	APN	5	137296307	missense	probably damaging	1.00
IGL02656:Srrt	APN	5	137299676	unclassified	probably benign
IGL03105:Srrt	APN	5	137299844	missense	possibly damaging	0.72
IGL03137:Srrt	APN	5	137296117	unclassified	probably benign
R0281:Srrt	UTSW	5	137296127	unclassified	probably benign
R0322:Srrt	UTSW	5	137296608	missense	probably damaging	1.00
R0347:Srrt	UTSW	5	137299676	unclassified	probably benign
R1253:Srrt	UTSW	5	137300336	missense	probably benign	0.01
R1397:Srrt	UTSW	5	137300261	missense	possibly damaging	0.89
R1520:Srrt	UTSW	5	137298766	missense	probably damaging	0.99
R1561:Srrt	UTSW	5	137300019	missense	probably benign	0.24
R1645:Srrt	UTSW	5	137302139	nonsense	probably null
R1759:Srrt	UTSW	5	137302950	missense	probably damaging	1.00
R1770:Srrt	UTSW	5	137299860	unclassified	probably benign
R1795:Srrt	UTSW	5	137303012	unclassified	probably benign
R1848:Srrt	UTSW	5	137296945	missense	probably damaging	1.00
R3838:Srrt	UTSW	5	137302125	critical splice donor site	probably null
R5015:Srrt	UTSW	5	137296009	missense	probably damaging	1.00
R5068:Srrt	UTSW	5	137296541	missense	possibly damaging	0.93
R5163:Srrt	UTSW	5	137296773	critical splice donor site	probably null
R5316:Srrt	UTSW	5	137296551	missense	probably benign	0.16
R5343:Srrt	UTSW	5	137297165	missense	probably damaging	1.00
R5351:Srrt	UTSW	5	137298284	makesense	probably null
R5412:Srrt	UTSW	5	137296287	missense	probably damaging	1.00
R5806:Srrt	UTSW	5	137297917	missense	probably damaging	0.98
R6470:Srrt	UTSW	5	137302656	missense	probably damaging	1.00
R6497:Srrt	UTSW	5	137297506	missense	probably damaging	1.00
R6755:Srrt	UTSW	5	137302930	missense	probably damaging	1.00
R6828:Srrt	UTSW	5	137296968	missense	probably damaging	1.00
R6875:Srrt	UTSW	5	137298673	missense	probably benign	0.00
R7586:Srrt	UTSW	5	137302195	missense	probably damaging	0.98
R7677:Srrt	UTSW	5	137300148	missense	probably damaging	0.99
R8028:Srrt	UTSW	5	137302498	critical splice donor site	probably benign
R8413:Srrt	UTSW	5	137300327	missense	possibly damaging	0.84
R8438:Srrt	UTSW	5	137303000	missense	unknown
R8795:Srrt	UTSW	5	137299976	missense	probably benign	0.17
R8925:Srrt	UTSW	5	137298808	missense	probably benign	0.26
R8927:Srrt	UTSW	5	137298808	missense	probably benign	0.26
R9024:Srrt	UTSW	5	137303029	missense	unknown
R9632:Srrt	UTSW	5	137298427	missense	possibly damaging	0.79
R9667:Srrt	UTSW	5	137297470	missense	probably damaging	0.96
R9793:Srrt	UTSW	5	137296573	missense	probably benign	0.37
RF018:Srrt	UTSW	5	137300000	missense	probably benign	0.23
Z1176:Srrt	UTSW	5	137298227	critical splice donor site	probably null

Posted On

2015-04-16