Mutagenetix > Incidental Mutation

Incidental Mutation 'R1645:Srrt'

173807

Institutional Source

Beutler Lab

Gene Symbol

Srrt

Ensembl Gene

ENSMUSG00000037364

Gene Name

serrate RNA effector molecule homolog (Arabidopsis)

Synonyms

2810019G02Rik, Asr2, Ars2

MMRRC Submission

039681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1645 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

137295704-137307674 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 137302139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 59 (K59*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040873] [ENSMUST00000196109] [ENSMUST00000197466] [ENSMUST00000197484] [ENSMUST00000198526] [ENSMUST00000199243]

AlphaFold

Q99MR6

Predicted Effect

probably null
Transcript: ENSMUST00000040873
AA Change: K192*

SMART Domains

Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: K192*

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: ENSMUST00000196109

SMART Domains

Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364

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

noncoding transcript
Transcript: ENSMUST00000196394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197376

Predicted Effect

probably null
Transcript: ENSMUST00000197466
AA Change: K192*

SMART Domains

Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: K192*

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

probably benign
Transcript: ENSMUST00000197484

SMART Domains

Protein: ENSMUSP00000142660
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
low complexity region	3	41	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000198526
AA Change: K192*

SMART Domains

Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364
AA Change: K192*

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

Predicted Effect

probably null
Transcript: ENSMUST00000199243
AA Change: K192*

SMART Domains

Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: K192*

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: ENSMUST00000199365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200643

Predicted Effect

probably null
Transcript: ENSMUST00000223263
AA Change: K59*

Predicted Effect

probably benign
Transcript: ENSMUST00000199756

Predicted Effect

probably benign
Transcript: ENSMUST00000199605

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,155,277	M1732V	probably benign	Het
Acvr1	A	T	2: 58,462,899	C350S	probably damaging	Het
Adgrl2	A	T	3: 148,865,608	V130D	probably damaging	Het
Anapc1	A	G	2: 128,658,246		probably null	Het
Asap1	A	T	15: 64,089,475	V1116E	probably damaging	Het
Bcas1	T	A	2: 170,387,167	D308V	probably damaging	Het
Brca1	G	A	11: 101,510,053	H1468Y	probably benign	Het
C2cd5	A	G	6: 143,050,126	C421R	probably damaging	Het
C4b	A	G	17: 34,740,597	S363P	probably damaging	Het
Camk2b	A	T	11: 5,972,719	C484S	probably damaging	Het
Ccny	T	C	18: 9,345,199	T192A	probably damaging	Het
Chl1	G	T	6: 103,683,180	A356S	probably benign	Het
Dst	T	A	1: 34,225,722	Y4850N	probably damaging	Het
Dyrk4	C	A	6: 126,894,793	E171*	probably null	Het
Ephb1	A	G	9: 101,927,559	Y928H	probably damaging	Het
Fam114a2	A	T	11: 57,499,795	N304K	probably benign	Het
Fam189b	C	A	3: 89,186,847	D322E	possibly damaging	Het
Fras1	A	T	5: 96,700,586	D1820V	possibly damaging	Het
Gabbr2	A	T	4: 46,664,963		probably null	Het
Gm6358	T	C	16: 89,141,079	W69R	unknown	Het
Ikbkb	C	A	8: 22,691,066	S127I	probably damaging	Het
Impa1	A	T	3: 10,328,441	M48K	possibly damaging	Het
Klra2	A	T	6: 131,243,894		probably null	Het
Lama1	A	T	17: 67,737,682	Y192F	probably benign	Het
Lama2	T	A	10: 27,368,985	T267S	probably damaging	Het
Mroh7	G	A	4: 106,720,668	T271I	probably benign	Het
Myo9b	A	G	8: 71,322,978	E348G	probably damaging	Het
Nrp2	C	T	1: 62,785,124	P796L	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr120	A	T	17: 37,726,338	T114S	probably benign	Het
Olfr640	A	G	7: 104,022,003	F105S	probably damaging	Het
Olfr827	T	A	10: 130,210,212	D306V	probably damaging	Het
P3h2	T	A	16: 25,997,232	H177L	probably damaging	Het
Pcdhb16	T	C	18: 37,479,370	I461T	probably benign	Het
Pdlim3	A	G	8: 45,896,748	I32V	probably benign	Het
Pigu	A	C	2: 155,328,678	Y143*	probably null	Het
Prkd3	A	C	17: 78,956,520		probably null	Het
Psrc1	C	T	3: 108,385,238	R116W	probably damaging	Het
Rab5b	A	G	10: 128,686,826	S29P	possibly damaging	Het
Rbm26	A	G	14: 105,150,817	V403A	probably damaging	Het
Rbm47	G	T	5: 66,027,138	R41S	probably benign	Het
Rngtt	A	G	4: 33,362,939	I364M	probably damaging	Het
Ryr2	A	T	13: 11,718,482	C2271*	probably null	Het
Shcbp1	T	A	8: 4,749,645	Q277L	probably benign	Het
Sntg1	T	C	1: 8,803,931	T5A	probably benign	Het
Snx24	T	C	18: 53,389,562	F163S	probably benign	Het
Spert	C	A	14: 75,583,649	R212L	probably benign	Het
Srp72	T	C	5: 76,998,278	V581A	probably benign	Het
Tnrc6b	A	G	15: 80,882,958	T975A	probably damaging	Het
Vmn1r174	G	A	7: 23,754,352	V148I	possibly damaging	Het
Vmn2r115	T	A	17: 23,346,218	C360S	possibly damaging	Het
Vwa8	A	T	14: 79,182,987	Q1709H	probably damaging	Het
Wdr11	A	G	7: 129,613,889	T526A	probably benign	Het
Zfp532	C	A	18: 65,687,264	N973K	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
IGL02227:Srrt	APN	5	137296274	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
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

Predicted Primers

PCR Primer
(F):5'- TGACTGGGGATGACAATGACCCAC -3'
(R):5'- GGCAGCATCGCAGAGATTGACTTG -3'

Sequencing Primer
(F):5'- TGTGCTGTACCAAGAGGC -3'
(R):5'- ATTGACTTGGGGGTGCCAC -3'

Posted On

2014-04-24