Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Csde1'

199842

Institutional Source

Beutler Lab

Gene Symbol

Csde1

Ensembl Gene

ENSMUSG00000068823

Gene Name

cold shock domain containing E1, RNA binding

Synonyms

unr, D3Jfr1

MMRRC Submission

039770-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R1738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102927742-102965502 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 102936493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823

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: ENSMUST00000196521

Predicted Effect

probably benign
Transcript: ENSMUST00000197488

SMART Domains

Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823

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

SMART Domains

Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823

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

probably benign
Transcript: ENSMUST00000198180

SMART Domains

Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823

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

noncoding transcript
Transcript: ENSMUST00000198906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198944

Predicted Effect

probably benign
Transcript: ENSMUST00000199240

SMART Domains

Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823

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

probably benign
Transcript: ENSMUST00000199420

SMART Domains

Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823

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

probably benign
Transcript: ENSMUST00000199571

SMART Domains

Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823

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: 97.5%
3x: 96.8%
10x: 94.7%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,475 (GRCm39)	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl3	T	G	5: 81,535,826 (GRCm39)	M155R	probably damaging	Het
Ak9	A	T	10: 41,211,917 (GRCm39)	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,326,942 (GRCm39)	G647D	probably damaging	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Arhgap19	A	G	19: 41,772,820 (GRCm39)	I291T	probably benign	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Bsn	T	C	9: 107,984,133 (GRCm39)	D3307G	unknown	Het
Cby2	C	T	14: 75,830,497 (GRCm39)	M1I	probably null	Het
Ces2h	T	A	8: 105,745,697 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,744,083 (GRCm39)	E88G	probably damaging	Het
Coro6	A	G	11: 77,360,251 (GRCm39)	D407G	probably benign	Het
Cpe	A	T	8: 65,064,475 (GRCm39)	F241L	probably damaging	Het
Cspg4b	T	G	13: 113,504,034 (GRCm39)	L179R	possibly damaging	Het
Dgki	A	G	6: 37,034,367 (GRCm39)	I361T	possibly damaging	Het
Dnah3	A	G	7: 119,634,582 (GRCm39)	V1298A	probably damaging	Het
Duox2	T	A	2: 122,123,895 (GRCm39)	I430F	probably damaging	Het
Gak	T	C	5: 108,764,842 (GRCm39)	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,802,318 (GRCm39)		probably null	Het
Gbp11	T	C	5: 105,474,510 (GRCm39)	N389D	probably benign	Het
Grm1	A	G	10: 10,812,163 (GRCm39)	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,732 (GRCm39)	K36E	probably damaging	Het
Il24	T	A	1: 130,815,099 (GRCm39)		probably null	Het
Ino80d	T	C	1: 63,132,624 (GRCm39)	D13G	probably damaging	Het
Ipp	G	A	4: 116,387,618 (GRCm39)	V399I	probably benign	Het
Kank3	A	T	17: 34,036,168 (GRCm39)	D12V	probably damaging	Het
Lcn12	A	T	2: 25,383,263 (GRCm39)	S74R	probably damaging	Het
Mast3	T	C	8: 71,237,200 (GRCm39)	T637A	probably benign	Het
Nes	C	A	3: 87,883,728 (GRCm39)	Y662*	probably null	Het
Nudt13	A	T	14: 20,359,762 (GRCm39)	H163L	probably damaging	Het
Or1j17	T	C	2: 36,578,797 (GRCm39)	V261A	probably benign	Het
Or4a2	T	C	2: 89,248,362 (GRCm39)	T132A	probably benign	Het
Or4p7	G	A	2: 88,221,671 (GRCm39)	V27I	probably benign	Het
Or8k1	A	T	2: 86,048,060 (GRCm39)		probably null	Het
Pde6b	C	T	5: 108,578,425 (GRCm39)	R788*	probably null	Het
Pex13	A	G	11: 23,599,458 (GRCm39)	L351P	probably benign	Het
Phc1	A	G	6: 122,295,525 (GRCm39)	M942T	probably damaging	Het
Plch1	A	T	3: 63,626,659 (GRCm39)	D571E	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,874,125 (GRCm39)	N470S	possibly damaging	Het
Primpol	A	G	8: 47,060,873 (GRCm39)	S82P	probably damaging	Het
Prkg1	T	C	19: 30,764,322 (GRCm39)	D256G	possibly damaging	Het
Prune2	A	G	19: 17,102,374 (GRCm39)	E2511G	probably benign	Het
Rassf8	T	C	6: 145,761,034 (GRCm39)	I120T	probably benign	Het
Rfx4	G	A	10: 84,716,839 (GRCm39)		probably null	Het
Rtp2	A	T	16: 23,746,423 (GRCm39)	N69K	probably benign	Het
Sh3d19	A	T	3: 86,027,913 (GRCm39)	I597F	probably damaging	Het
Sorl1	T	A	9: 42,001,261 (GRCm39)	E246D	probably benign	Het
Tet2	T	A	3: 133,187,148 (GRCm39)	I1094L	probably benign	Het
Tlr4	A	T	4: 66,759,313 (GRCm39)	H702L	probably benign	Het
Tnfrsf14	T	C	4: 155,009,788 (GRCm39)	D47G	probably damaging	Het
Ttn	T	C	2: 76,777,157 (GRCm39)	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,576,377 (GRCm39)	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,369,815 (GRCm39)	S83P	probably benign	Het
Vtn	A	G	11: 78,390,422 (GRCm39)	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,723 (GRCm39)	V456D	probably damaging	Het
Wdr91	G	A	6: 34,861,243 (GRCm39)	P653L	probably damaging	Het
Ythdf1	G	A	2: 180,553,285 (GRCm39)	A283V	probably benign	Het
Zfp975	C	A	7: 42,312,373 (GRCm39)	W80L	probably benign	Het

Other mutations in Csde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Csde1	APN	3	102,947,841 (GRCm39)	missense	possibly damaging	0.80
IGL01419:Csde1	APN	3	102,946,086 (GRCm39)	missense	probably damaging	1.00
IGL02147:Csde1	APN	3	102,947,250 (GRCm39)	missense	probably damaging	1.00
IGL02161:Csde1	APN	3	102,957,654 (GRCm39)	missense	probably damaging	0.99
IGL02442:Csde1	APN	3	102,962,135 (GRCm39)	missense	probably benign	0.20
IGL03036:Csde1	APN	3	102,951,155 (GRCm39)	missense	probably damaging	0.99
R0526:Csde1	UTSW	3	102,963,742 (GRCm39)	missense	possibly damaging	0.76
R0727:Csde1	UTSW	3	102,950,954 (GRCm39)	missense	probably benign
R1744:Csde1	UTSW	3	102,957,631 (GRCm39)	missense	probably benign	0.31
R2007:Csde1	UTSW	3	102,952,107 (GRCm39)	missense	probably damaging	1.00
R4665:Csde1	UTSW	3	102,954,388 (GRCm39)	missense	probably damaging	1.00
R4806:Csde1	UTSW	3	102,963,685 (GRCm39)	unclassified	probably benign
R5202:Csde1	UTSW	3	102,947,250 (GRCm39)	missense	probably damaging	1.00
R5298:Csde1	UTSW	3	102,954,525 (GRCm39)	splice site	probably null
R5429:Csde1	UTSW	3	102,960,157 (GRCm39)	missense	possibly damaging	0.75
R5896:Csde1	UTSW	3	102,947,859 (GRCm39)	intron	probably benign
R6076:Csde1	UTSW	3	102,948,545 (GRCm39)	missense	possibly damaging	0.82
R6093:Csde1	UTSW	3	102,960,218 (GRCm39)	missense	probably damaging	1.00
R6118:Csde1	UTSW	3	102,962,070 (GRCm39)	missense	probably benign	0.45
R6213:Csde1	UTSW	3	102,947,830 (GRCm39)	missense	probably damaging	1.00
R6263:Csde1	UTSW	3	102,947,333 (GRCm39)	missense	probably benign	0.05
R6653:Csde1	UTSW	3	102,960,184 (GRCm39)	missense	probably damaging	1.00
R6894:Csde1	UTSW	3	102,951,972 (GRCm39)	missense	possibly damaging	0.56
R7155:Csde1	UTSW	3	102,947,269 (GRCm39)	missense	probably damaging	0.99
R8253:Csde1	UTSW	3	102,946,037 (GRCm39)	missense	probably damaging	0.98
R8270:Csde1	UTSW	3	102,946,071 (GRCm39)	missense	possibly damaging	0.49
R8307:Csde1	UTSW	3	102,946,389 (GRCm39)	intron	probably benign
R9036:Csde1	UTSW	3	102,950,976 (GRCm39)	missense	probably damaging	1.00
R9628:Csde1	UTSW	3	102,962,825 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGCTGTACTGTGAGATTGCCCG -3'
(R):5'- AGTATTGCTTTGTCCAGATGCCTCC -3'

Sequencing Primer
(F):5'- GGTGCAGCAGCAGTTGTATTC -3'
(R):5'- AGCACCGAGAACCTTCTCTTTTAG -3'

Posted On

2014-05-23