Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Srrt'

195175

Institutional Source

Beutler Lab

Gene Symbol

Srrt

Ensembl Gene

ENSMUSG00000037364

Gene Name

serrate RNA effector molecule homolog (Arabidopsis)

Synonyms

Asr2, Ars2, 2810019G02Rik

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137293966-137305936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 137301212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 71 (H71Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142435 (fasta)

Gene Model

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

AlphaFold

Q99MR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040873
AA Change: H71Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364
AA Change: H71Q

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: ENSMUST00000197376

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197466
AA Change: H71Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364
AA Change: H71Q

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

possibly damaging
Transcript: ENSMUST00000199243
AA Change: H71Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364
AA Change: H71Q

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 damaging
Transcript: ENSMUST00000198526
AA Change: H71Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364
AA Change: H71Q

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

noncoding transcript
Transcript: ENSMUST00000199473

Predicted Effect

probably benign
Transcript: ENSMUST00000199365

Predicted Effect

probably benign
Transcript: ENSMUST00000223263

Predicted Effect

probably benign
Transcript: ENSMUST00000199605

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,272 (GRCm39)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,184,674 (GRCm39)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,556,211 (GRCm39)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,209,805 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,559,853 (GRCm39)	G260E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a4	T	A	16: 29,275,429 (GRCm39)	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,024,729 (GRCm39)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,743,243 (GRCm39)	D159E	probably damaging	Het
Chd1	T	A	17: 17,607,533 (GRCm39)	D360E	probably benign	Het
Col16a1	G	T	4: 129,978,062 (GRCm39)	G781V	probably damaging	Het
Col6a5	T	A	9: 105,808,045 (GRCm39)	E1001V	unknown	Het
Cracdl	A	T	1: 37,664,791 (GRCm39)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,035,060 (GRCm39)	M246R	probably benign	Het
Dcn	T	C	10: 97,349,517 (GRCm39)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,069,798 (GRCm39)	N338D	probably benign	Het
Entpd1	G	T	19: 40,600,968 (GRCm39)		probably null	Het
Epb41l1	A	G	2: 156,363,894 (GRCm39)	D801G	probably benign	Het
Fam186a	T	A	15: 99,864,762 (GRCm39)	K23*	probably null	Het
Gbe1	T	C	16: 70,284,929 (GRCm39)	M417T	probably benign	Het
Gmnc	T	A	16: 26,784,497 (GRCm39)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,768,583 (GRCm39)	S35P	probably damaging	Het
Grid1	T	C	14: 35,167,988 (GRCm39)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,526,071 (GRCm39)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,399 (GRCm39)	I308N	probably damaging	Het
Inpp4b	A	G	8: 82,494,732 (GRCm39)	D49G	probably benign	Het
Ipmk	C	A	10: 71,217,133 (GRCm39)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,181,320 (GRCm39)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,841,047 (GRCm39)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,477,509 (GRCm39)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,124,633 (GRCm39)		probably null	Het
Kiss1r	T	C	10: 79,757,612 (GRCm39)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lrpprc	T	C	17: 85,047,509 (GRCm39)	K908E	probably damaging	Het
Mak	C	A	13: 41,210,110 (GRCm39)	W42L	probably damaging	Het
Map3k21	A	G	8: 126,671,519 (GRCm39)	T936A	probably benign	Het
Marchf7	C	T	2: 60,064,888 (GRCm39)	S388F	probably damaging	Het
Matcap1	A	T	8: 106,012,182 (GRCm39)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,232,301 (GRCm39)	I292F	probably benign	Het
Myh3	C	A	11: 66,987,717 (GRCm39)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,089,275 (GRCm39)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,983,956 (GRCm39)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,450,369 (GRCm39)	T43A	probably damaging	Het
Nip7	A	G	8: 107,784,767 (GRCm39)	N124S	probably benign	Het
Or3a1	G	A	11: 74,225,808 (GRCm39)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,101,356 (GRCm39)	S271P	probably benign	Het
Or6c75	T	A	10: 129,336,775 (GRCm39)	S7R	probably benign	Het
Or7g25	C	T	9: 19,160,384 (GRCm39)	V104I	probably benign	Het
Or8b55	T	C	9: 38,727,194 (GRCm39)	Y132H	probably damaging	Het
Otoa	T	C	7: 120,733,326 (GRCm39)	L731P	probably damaging	Het
Pcnx2	G	A	8: 126,500,717 (GRCm39)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,407,224 (GRCm39)	T492A	probably damaging	Het
Pgm1	A	G	4: 99,824,305 (GRCm39)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,119,535 (GRCm39)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,387,922 (GRCm39)	A195T	probably damaging	Het
Ppib	C	T	9: 65,968,764 (GRCm39)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,181,067 (GRCm39)	T13K	probably benign	Het
Psmg2	A	T	18: 67,781,246 (GRCm39)	S113C	probably benign	Het
Rapgef2	A	G	3: 78,974,038 (GRCm39)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm39)	R465S	probably damaging	Het
Reln	A	G	5: 22,215,287 (GRCm39)	Y1055H	probably damaging	Het
Ros1	A	T	10: 51,996,922 (GRCm39)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm39)	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765 (GRCm39)	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,863,248 (GRCm39)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,551,151 (GRCm39)	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,518,237 (GRCm39)	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,438,062 (GRCm39)		probably null	Het
Smg7	G	T	1: 152,724,597 (GRCm39)	T536K	probably benign	Het
Smyd4	A	G	11: 75,273,192 (GRCm39)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,216,056 (GRCm39)	*50C	probably null	Het
Speg	A	T	1: 75,377,806 (GRCm39)	M855L	possibly damaging	Het
St6galnac5	A	G	3: 152,552,130 (GRCm39)	S146P	probably damaging	Het
Syne1	T	A	10: 5,299,369 (GRCm39)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,566,278 (GRCm39)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,642,765 (GRCm39)	M135I	probably benign	Het
Tpr	A	T	1: 150,305,275 (GRCm39)	E1521D	probably benign	Het
Uba3	C	T	6: 97,173,865 (GRCm39)	G107R	probably damaging	Het
Unc45b	G	T	11: 82,820,325 (GRCm39)	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,211,297 (GRCm39)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,914,755 (GRCm39)	N773K	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wfs1	G	C	5: 37,124,359 (GRCm39)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,836,412 (GRCm39)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,475,403 (GRCm39)	A145S	probably damaging	Het
Zfp971	A	T	2: 177,675,722 (GRCm39)	E440D	probably damaging	Het

Other mutations in Srrt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Srrt	APN	5	137,294,240 (GRCm39)	unclassified	probably benign
IGL01062:Srrt	APN	5	137,294,569 (GRCm39)	missense	probably damaging	1.00
IGL02227:Srrt	APN	5	137,294,536 (GRCm39)	missense	probably damaging	1.00
IGL02656:Srrt	APN	5	137,297,938 (GRCm39)	unclassified	probably benign
IGL03105:Srrt	APN	5	137,298,106 (GRCm39)	missense	possibly damaging	0.72
IGL03137:Srrt	APN	5	137,294,379 (GRCm39)	unclassified	probably benign
R0281:Srrt	UTSW	5	137,294,389 (GRCm39)	unclassified	probably benign
R0322:Srrt	UTSW	5	137,294,870 (GRCm39)	missense	probably damaging	1.00
R0347:Srrt	UTSW	5	137,297,938 (GRCm39)	unclassified	probably benign
R1253:Srrt	UTSW	5	137,298,598 (GRCm39)	missense	probably benign	0.01
R1397:Srrt	UTSW	5	137,298,523 (GRCm39)	missense	possibly damaging	0.89
R1520:Srrt	UTSW	5	137,297,028 (GRCm39)	missense	probably damaging	0.99
R1561:Srrt	UTSW	5	137,298,281 (GRCm39)	missense	probably benign	0.24
R1645:Srrt	UTSW	5	137,300,401 (GRCm39)	nonsense	probably null
R1770:Srrt	UTSW	5	137,298,122 (GRCm39)	unclassified	probably benign
R1795:Srrt	UTSW	5	137,301,274 (GRCm39)	unclassified	probably benign
R1848:Srrt	UTSW	5	137,295,207 (GRCm39)	missense	probably damaging	1.00
R3838:Srrt	UTSW	5	137,300,387 (GRCm39)	critical splice donor site	probably null
R5015:Srrt	UTSW	5	137,294,271 (GRCm39)	missense	probably damaging	1.00
R5068:Srrt	UTSW	5	137,294,803 (GRCm39)	missense	possibly damaging	0.93
R5163:Srrt	UTSW	5	137,295,035 (GRCm39)	critical splice donor site	probably null
R5316:Srrt	UTSW	5	137,294,813 (GRCm39)	missense	probably benign	0.16
R5343:Srrt	UTSW	5	137,295,427 (GRCm39)	missense	probably damaging	1.00
R5351:Srrt	UTSW	5	137,296,546 (GRCm39)	makesense	probably null
R5412:Srrt	UTSW	5	137,294,549 (GRCm39)	missense	probably damaging	1.00
R5806:Srrt	UTSW	5	137,296,179 (GRCm39)	missense	probably damaging	0.98
R6470:Srrt	UTSW	5	137,300,918 (GRCm39)	missense	probably damaging	1.00
R6497:Srrt	UTSW	5	137,295,768 (GRCm39)	missense	probably damaging	1.00
R6755:Srrt	UTSW	5	137,301,192 (GRCm39)	missense	probably damaging	1.00
R6828:Srrt	UTSW	5	137,295,230 (GRCm39)	missense	probably damaging	1.00
R6875:Srrt	UTSW	5	137,296,935 (GRCm39)	missense	probably benign	0.00
R7586:Srrt	UTSW	5	137,300,457 (GRCm39)	missense	probably damaging	0.98
R7677:Srrt	UTSW	5	137,298,410 (GRCm39)	missense	probably damaging	0.99
R8028:Srrt	UTSW	5	137,300,760 (GRCm39)	critical splice donor site	probably benign
R8413:Srrt	UTSW	5	137,298,589 (GRCm39)	missense	possibly damaging	0.84
R8438:Srrt	UTSW	5	137,301,262 (GRCm39)	missense	unknown
R8795:Srrt	UTSW	5	137,298,238 (GRCm39)	missense	probably benign	0.17
R8925:Srrt	UTSW	5	137,297,070 (GRCm39)	missense	probably benign	0.26
R8927:Srrt	UTSW	5	137,297,070 (GRCm39)	missense	probably benign	0.26
R9024:Srrt	UTSW	5	137,301,291 (GRCm39)	missense	unknown
R9632:Srrt	UTSW	5	137,296,689 (GRCm39)	missense	possibly damaging	0.79
R9667:Srrt	UTSW	5	137,295,732 (GRCm39)	missense	probably damaging	0.96
R9793:Srrt	UTSW	5	137,294,835 (GRCm39)	missense	probably benign	0.37
RF018:Srrt	UTSW	5	137,298,262 (GRCm39)	missense	probably benign	0.23
Z1176:Srrt	UTSW	5	137,296,489 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACGGAGGATATGGTCTCTCACC -3'
(R):5'- ACTGCCTAGTGTACAGTGAGTTCGG -3'

Sequencing Primer
(F):5'- AGGATATGGTCTCTCACCCAAGG -3'
(R):5'- ccctgtgatctcagcacc -3'

Posted On

2014-05-23