Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Srrt'

536366

Institutional Source

Beutler Lab

Gene Symbol

Srrt

Ensembl Gene

ENSMUSG00000037364

Gene Name

serrate RNA effector molecule homolog (Arabidopsis)

Synonyms

2810019G02Rik, Asr2, Ars2

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137295704-137307674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137298673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 100 (F100S)

Ref Sequence

ENSEMBL: ENSMUSP00000142351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000196109] [ENSMUST00000196208] [ENSMUST00000197466] [ENSMUST00000197484] [ENSMUST00000198526] [ENSMUST00000199243]

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 benign
Transcript: ENSMUST00000040873

SMART Domains

Protein: ENSMUSP00000043123
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	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

probably benign
Transcript: ENSMUST00000196109
AA Change: F100S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364
AA Change: F100S

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

probably benign
Transcript: ENSMUST00000197466

SMART Domains

Protein: ENSMUSP00000142564
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	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 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

Predicted Effect

probably benign
Transcript: ENSMUST00000199243

SMART Domains

Protein: ENSMUSP00000143232
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	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

probably benign
Transcript: ENSMUST00000199605

Predicted Effect

probably benign
Transcript: ENSMUST00000199756

Predicted Effect

probably benign
Transcript: ENSMUST00000223263

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657		probably null	Het
Eif3l	A	G	15: 79,085,560	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425		probably null	Het
Fgf23	G	T	6: 127,073,216	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621		probably null	Het
Ipo13	A	T	4: 117,904,911	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Kat6a	G	A	8: 22,932,361	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836		probably null	Het
Ogdh	A	G	11: 6,340,477	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831	K792R	probably benign	Het
Stard9	G	T	2: 120,697,436	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007	N93K	possibly damaging	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
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
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'- CGCATAAAGCCTGGGTATCG -3'
(R):5'- GGCTAGTTTTAAATGCTGCTTACAC -3'

Sequencing Primer
(F):5'- CGCATAAAGCCTGGGTATCGTTTAC -3'
(R):5'- AAAGTTGTACTGGTTACTTCTTGC -3'

Posted On

2018-10-18