Mutagenetix > Incidental Mutations

Incidental Mutation 'R5429:Csde1'

427055

Institutional Source

Beutler Lab

Gene Symbol

Csde1

Ensembl Gene

ENSMUSG00000068823

Gene Name

cold shock domain containing E1, RNA binding

Synonyms

unr, D3Jfr1

MMRRC Submission

042995-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103020426-103058186 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103052841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 564 (T564A)

Ref Sequence

ENSEMBL: ENSMUSP00000143028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029446] [ENSMUST00000197488] [ENSMUST00000197827] [ENSMUST00000198180] [ENSMUST00000199240] [ENSMUST00000199420] [ENSMUST00000199571]

AlphaFold

Q91W50

Predicted Effect

probably benign
Transcript: ENSMUST00000029446
AA Change: T595A

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: T595A

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	187	248	1.52e-19	SMART
CSP	350	413	6.22e-16	SMART
CSP	520	582	2.86e-15	SMART
CSP	675	738	2.2e-16	SMART
Pfam:SUZ-C	757	788	3.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196685

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197488
AA Change: T564A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: T564A

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	726	757	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197827
AA Change: T595A

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: T595A

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	187	248	1.52e-19	SMART
CSP	350	413	6.22e-16	SMART
CSP	520	582	2.86e-15	SMART
CSP	675	738	2.2e-16	SMART
Pfam:SUZ-C	757	788	3.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197844

Predicted Effect

probably benign
Transcript: ENSMUST00000198174

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198180
AA Change: T564A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: T564A

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199240
AA Change: T465A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
AA Change: T465A

Domain	Start	End	E-Value	Type
CSP	57	118	9e-22	SMART
CSP	220	283	3.8e-18	SMART
CSP	390	452	1.7e-17	SMART
CSP	545	608	1.4e-18	SMART
Pfam:SUZ-C	626	659	6.2e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199420
AA Change: T564A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: T564A

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199571
AA Change: T564A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: T564A

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	Het

Other mutations in Csde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Csde1	APN	3	103040525	missense	possibly damaging	0.80
IGL01419:Csde1	APN	3	103038770	missense	probably damaging	1.00
IGL02147:Csde1	APN	3	103039934	missense	probably damaging	1.00
IGL02161:Csde1	APN	3	103050338	missense	probably damaging	0.99
IGL02442:Csde1	APN	3	103054819	missense	probably benign	0.20
IGL03036:Csde1	APN	3	103043839	missense	probably damaging	0.99
R0526:Csde1	UTSW	3	103056426	missense	possibly damaging	0.76
R0727:Csde1	UTSW	3	103043638	missense	probably benign
R1738:Csde1	UTSW	3	103029177	intron	probably benign
R1744:Csde1	UTSW	3	103050315	missense	probably benign	0.31
R2007:Csde1	UTSW	3	103044791	missense	probably damaging	1.00
R4665:Csde1	UTSW	3	103047072	missense	probably damaging	1.00
R4806:Csde1	UTSW	3	103056369	unclassified	probably benign
R5202:Csde1	UTSW	3	103039934	missense	probably damaging	1.00
R5298:Csde1	UTSW	3	103047209	splice site	probably null
R5896:Csde1	UTSW	3	103040543	intron	probably benign
R6076:Csde1	UTSW	3	103041229	missense	possibly damaging	0.82
R6093:Csde1	UTSW	3	103052902	missense	probably damaging	1.00
R6118:Csde1	UTSW	3	103054754	missense	probably benign	0.45
R6213:Csde1	UTSW	3	103040514	missense	probably damaging	1.00
R6263:Csde1	UTSW	3	103040017	missense	probably benign	0.05
R6653:Csde1	UTSW	3	103052868	missense	probably damaging	1.00
R6894:Csde1	UTSW	3	103044656	missense	possibly damaging	0.56
R7155:Csde1	UTSW	3	103039953	missense	probably damaging	0.99
R8253:Csde1	UTSW	3	103038721	missense	probably damaging	0.98
R8270:Csde1	UTSW	3	103038755	missense	possibly damaging	0.49
R8307:Csde1	UTSW	3	103039073	intron	probably benign
R9036:Csde1	UTSW	3	103043660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCATTGCAGAGTCATTGCATAAC -3'
(R):5'- GTCTATAGAACTAAAGCCTAAGCACAG -3'

Sequencing Primer
(F):5'- CACCTTGTGCGAACATT -3'
(R):5'- TCTGCTCCTAAGACACCTGAAG -3'

Posted On

2016-09-01