Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Sde2'

273641

Institutional Source

Beutler Lab

Gene Symbol

Sde2

Ensembl Gene

ENSMUSG00000038806

Gene Name

SDE2 telomere maintenance homolog (S. pombe)

Synonyms

BC031781

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180678716-180695678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180685750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 101 (C101S)

Ref Sequence

ENSEMBL: ENSMUSP00000037890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038091]

AlphaFold

Q8K1J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000038091
AA Change: C101S

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

SMART Domains

Protein: ENSMUSP00000037890
Gene: ENSMUSG00000038806
AA Change: C101S

Domain	Start	End	E-Value	Type
Pfam:Telomere_Sde2	30	167	3.2e-26	PFAM
low complexity region	224	241	N/A	INTRINSIC
Pfam:Telomere_Sde2_2	382	441	1.3e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194948

Meta Mutation Damage Score

0.4661

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,350 (GRCm39)	F6L	probably benign	Het
Aurkc	A	G	7: 7,003,029 (GRCm39)	I175V	probably damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bcat1	A	G	6: 144,965,068 (GRCm39)	V45A	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Ddx42	A	G	11: 106,122,019 (GRCm39)	E178G	possibly damaging	Het
Dmpk	T	C	7: 18,820,306 (GRCm39)	I101T	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Fosb	C	T	7: 19,040,557 (GRCm39)	R161H	probably damaging	Het
Gm6729	T	C	10: 86,376,582 (GRCm39)		noncoding transcript	Het
Gnb1	T	A	4: 155,639,483 (GRCm39)	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,911,113 (GRCm39)	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,480,853 (GRCm39)	I4441N	probably damaging	Het
Ighe	G	A	12: 113,234,994 (GRCm39)	Q389*	probably null	Het
Kcnj11	T	C	7: 45,749,026 (GRCm39)	D23G	probably damaging	Het
Lats2	G	T	14: 57,959,923 (GRCm39)	A191E	possibly damaging	Het
Lyplal1	A	G	1: 185,820,857 (GRCm39)	S197P	possibly damaging	Het
Map4	G	T	9: 109,864,280 (GRCm39)	V502L	probably benign	Het
Mgat5	A	G	1: 127,312,571 (GRCm39)	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,193,510 (GRCm39)	R68G	probably benign	Het
Nell1	T	A	7: 49,907,927 (GRCm39)	V362E	possibly damaging	Het
Or5m8	T	A	2: 85,822,774 (GRCm39)	F204L	probably benign	Het
Or6c66b	T	A	10: 129,376,778 (GRCm39)	I124N	probably damaging	Het
P4ha2	T	C	11: 54,010,079 (GRCm39)	Y279H	probably benign	Het
Pcid2	A	G	8: 13,150,413 (GRCm39)	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,151,624 (GRCm39)	I116T	probably benign	Het
Prdm9	A	G	17: 15,783,207 (GRCm39)		probably benign	Het
Prr5	T	A	15: 84,587,345 (GRCm39)	V365E	probably benign	Het
Ptprf	A	T	4: 118,082,127 (GRCm39)	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sec1	T	C	7: 45,328,663 (GRCm39)	H128R	probably damaging	Het
Serpinb6a	A	T	13: 34,102,764 (GRCm39)	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,263,973 (GRCm39)	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,882,879 (GRCm39)	K328N	probably benign	Het
Slc24a4	A	T	12: 102,200,951 (GRCm39)	K278N	probably benign	Het
Slc6a21	T	A	7: 44,930,266 (GRCm39)	W222R	probably damaging	Het
Slc7a2	A	G	8: 41,365,567 (GRCm39)	E466G	probably benign	Het
Sspo	A	G	6: 48,444,914 (GRCm39)	T2133A	possibly damaging	Het
Taco1	A	G	11: 105,963,364 (GRCm39)	M172V	probably benign	Het
Tmem127	T	A	2: 127,098,040 (GRCm39)	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,351,223 (GRCm39)		noncoding transcript	Het
Vac14	A	G	8: 111,397,722 (GRCm39)	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,534,667 (GRCm39)	K162I	probably benign	Het

Other mutations in Sde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Sde2	APN	1	180,683,383 (GRCm39)	missense	possibly damaging	0.77
IGL02178:Sde2	APN	1	180,678,796 (GRCm39)	missense	possibly damaging	0.89
IGL02435:Sde2	APN	1	180,693,717 (GRCm39)	missense	probably damaging	1.00
R0499:Sde2	UTSW	1	180,689,992 (GRCm39)	missense	probably benign	0.05
R1891:Sde2	UTSW	1	180,687,573 (GRCm39)	missense	probably benign	0.34
R1894:Sde2	UTSW	1	180,687,573 (GRCm39)	missense	probably benign	0.34
R2084:Sde2	UTSW	1	180,690,198 (GRCm39)	missense	probably damaging	0.98
R2099:Sde2	UTSW	1	180,693,713 (GRCm39)	missense	probably damaging	1.00
R6177:Sde2	UTSW	1	180,685,784 (GRCm39)	missense	probably damaging	0.99
R6269:Sde2	UTSW	1	180,683,371 (GRCm39)	missense	probably benign	0.06
R6996:Sde2	UTSW	1	180,678,754 (GRCm39)	missense	probably benign
R7058:Sde2	UTSW	1	180,693,827 (GRCm39)	missense	probably damaging	1.00
R7197:Sde2	UTSW	1	180,678,843 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCAAATGGATGGCTACCTTAGTG -3'
(R):5'- TACCTCTGAAACTAAGTCAGCC -3'

Sequencing Primer
(F):5'- GCTACCTTAGTGTCCTGGGTAAAATC -3'
(R):5'- AGTCAGCCCCAATTAAATGTTTGCC -3'

Posted On

2015-04-02