Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00585:Sde2'

13942

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sde2

Ensembl Gene

ENSMUSG00000038806

Gene Name

SDE2 telomere maintenance homolog (S. pombe)

Synonyms

BC031781

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL00585

Quality Score

Status

Chromosome

Chromosomal Location

180678716-180695678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180683383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 46 (C46S)

Ref Sequence

ENSEMBL: ENSMUSP00000037890 (fasta)

Gene Model

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

AlphaFold

Q8K1J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038091
AA Change: C46S

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037890
Gene: ENSMUSG00000038806
AA Change: C46S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,519,294 (GRCm39)	I664F	probably damaging	Het
Abcg4	A	T	9: 44,192,920 (GRCm39)	M142K	probably benign	Het
Afdn	A	G	17: 14,104,890 (GRCm39)	T1198A	probably damaging	Het
Angptl2	T	C	2: 33,136,239 (GRCm39)	S475P	probably damaging	Het
Ap3s2	T	C	7: 79,565,824 (GRCm39)	E34G	probably benign	Het
C1qtnf9	T	C	14: 61,017,442 (GRCm39)	F324S	probably damaging	Het
Cacng7	A	G	7: 3,414,547 (GRCm39)	Y170C	probably damaging	Het
Ceacam18	G	A	7: 43,286,435 (GRCm39)	V103M	possibly damaging	Het
Chrnb1	G	A	11: 69,684,742 (GRCm39)	P144S	probably damaging	Het
Chuk	T	C	19: 44,066,751 (GRCm39)	H652R	probably damaging	Het
Ckap5	C	T	2: 91,450,170 (GRCm39)	L1948F	probably damaging	Het
Clstn1	A	T	4: 149,722,769 (GRCm39)	H469L	probably benign	Het
Csf2rb2	C	T	15: 78,169,047 (GRCm39)	G594S	possibly damaging	Het
Ctsq	A	T	13: 61,184,941 (GRCm39)	D248E	probably benign	Het
Ep400	A	T	5: 110,903,771 (GRCm39)	I276K	possibly damaging	Het
Gbf1	G	A	19: 46,272,688 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,748 (GRCm39)	I433N	probably damaging	Het
Gm136	T	A	4: 34,752,322 (GRCm39)	E69V	probably damaging	Het
Gm28177	T	C	1: 52,121,738 (GRCm39)		probably null	Het
Gtf2h2	A	G	13: 100,617,506 (GRCm39)		probably benign	Het
Ints12	T	C	3: 132,806,570 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,026,158 (GRCm39)	D615G	probably damaging	Het
Mgme1	C	T	2: 144,113,909 (GRCm39)	P4S	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,636,733 (GRCm39)	A956V	probably damaging	Het
Oacyl	T	A	18: 65,882,711 (GRCm39)	M529K	possibly damaging	Het
Osbpl1a	T	A	18: 12,890,683 (GRCm39)	E519V	possibly damaging	Het
Pacs1	A	T	19: 5,203,726 (GRCm39)	V333E	probably damaging	Het
Pik3c3	T	G	18: 30,436,131 (GRCm39)		probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppp6r3	A	G	19: 3,540,826 (GRCm39)	C431R	probably damaging	Het
Pprc1	T	C	19: 46,051,087 (GRCm39)	S206P	possibly damaging	Het
Rab20	A	G	8: 11,504,212 (GRCm39)	Y163H	probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Spata20	T	G	11: 94,369,943 (GRCm39)	L784F	probably damaging	Het
Tnnt1	A	C	7: 4,510,549 (GRCm39)	M224R	possibly damaging	Het
Trank1	T	C	9: 111,178,358 (GRCm39)	F349L	possibly damaging	Het
Ttf1	T	C	2: 28,963,895 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,623,905 (GRCm39)	S651C	probably damaging	Het
Vps45	A	G	3: 95,907,378 (GRCm39)	*571R	probably null	Het
Yod1	G	A	1: 130,646,870 (GRCm39)	G249E	probably damaging	Het
Ythdc2	A	G	18: 44,997,428 (GRCm39)	Y340C	probably damaging	Het
Zfp366	G	A	13: 99,383,080 (GRCm39)		probably benign	Het
Zfp648	T	A	1: 154,079,935 (GRCm39)	D31E	possibly damaging	Het

Other mutations in Sde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3498:Sde2	UTSW	1	180,685,750 (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

Posted On

2012-12-06