Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02178:Sde2'

283191

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 #

IGL02178

Quality Score

Status

Chromosome

Chromosomal Location

180678716-180695678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 180678796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 20 (L20R)

Ref Sequence

ENSEMBL: ENSMUSP00000037890 (fasta)

Gene Model

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

AlphaFold

Q8K1J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038091
AA Change: L20R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037890
Gene: ENSMUSG00000038806
AA Change: L20R

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,418 (GRCm39)	T516S	possibly damaging	Het
6820408C15Rik	T	C	2: 152,269,921 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,232,422 (GRCm39)	D331G	probably benign	Het
Ar	A	G	X: 97,349,044 (GRCm39)	D675G	probably damaging	Het
Arhgap23	A	G	11: 97,343,179 (GRCm39)	D276G	probably benign	Het
Arhgef3	C	T	14: 26,987,486 (GRCm39)	R40*	probably null	Het
Atp1b4	G	T	X: 37,421,695 (GRCm39)	R293L	possibly damaging	Het
Borcs8	T	C	8: 70,617,897 (GRCm39)	L85P	probably damaging	Het
Carmil1	T	G	13: 24,278,386 (GRCm39)	K194N	probably damaging	Het
Catsper4	T	A	4: 133,954,637 (GRCm39)	K4N	probably benign	Het
Ccdc30	T	C	4: 119,206,921 (GRCm39)		probably benign	Het
Cd101	A	G	3: 100,901,082 (GRCm39)	S997P	probably damaging	Het
Cdkl5	G	A	X: 159,599,889 (GRCm39)	T792I	probably benign	Het
Cep135	A	G	5: 76,743,321 (GRCm39)	Y185C	probably damaging	Het
Clcn5	A	G	X: 7,052,563 (GRCm39)	Y59H	possibly damaging	Het
Col6a1	A	T	10: 76,546,909 (GRCm39)	I771N	unknown	Het
Crispld1	C	T	1: 17,832,327 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,825,718 (GRCm39)	I128T	possibly damaging	Het
Gga1	T	A	15: 78,776,247 (GRCm39)	M430K	probably benign	Het
Has2	A	G	15: 56,545,456 (GRCm39)	Y49H	probably damaging	Het
Ivd	A	G	2: 118,701,915 (GRCm39)	I116V	probably benign	Het
Krt75	T	C	15: 101,481,226 (GRCm39)	N183D	probably benign	Het
Map3k9	A	T	12: 81,790,611 (GRCm39)	I314N	probably damaging	Het
Map6d1	T	G	16: 20,055,448 (GRCm39)	E129D	probably damaging	Het
Mettl22	T	C	16: 8,296,146 (GRCm39)	V145A	probably benign	Het
Muc5ac	T	A	7: 141,359,184 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,802 (GRCm39)	F1416L	probably benign	Het
Nlrc4	T	C	17: 74,753,838 (GRCm39)	I182V	probably damaging	Het
Or5b21	T	A	19: 12,839,907 (GRCm39)	I256N	possibly damaging	Het
Or7a35	T	C	10: 78,853,554 (GRCm39)	Y133H	possibly damaging	Het
Phc3	T	C	3: 30,984,012 (GRCm39)	T668A	possibly damaging	Het
Pheta2	T	A	15: 82,227,527 (GRCm39)	D15E	possibly damaging	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Prkcq	A	C	2: 11,281,851 (GRCm39)	Y460S	possibly damaging	Het
Prmt8	T	A	6: 127,674,770 (GRCm39)	E286V	probably benign	Het
Ptprb	A	T	10: 116,158,437 (GRCm39)	M503L	probably benign	Het
Ptprq	A	T	10: 107,522,180 (GRCm39)	D590E	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps6kc1	A	T	1: 190,604,033 (GRCm39)	S196R	possibly damaging	Het
Ryr3	A	G	2: 112,656,144 (GRCm39)	Y1951H	probably benign	Het
Sbno1	A	T	5: 124,538,258 (GRCm39)		probably null	Het
Slco1a5	A	T	6: 142,208,414 (GRCm39)	C81*	probably null	Het
Snx2	A	G	18: 53,332,857 (GRCm39)	E177G	possibly damaging	Het
Spg11	A	T	2: 121,927,783 (GRCm39)	V667D	probably damaging	Het
Tas2r115	T	C	6: 132,714,271 (GRCm39)	T227A	probably benign	Het
Tmed9	A	G	13: 55,741,108 (GRCm39)	H41R	possibly damaging	Het
Vmn1r35	T	G	6: 66,656,086 (GRCm39)	S28R	probably damaging	Het
Vmn2r110	A	C	17: 20,804,706 (GRCm39)		probably null	Het
Vstm2l	T	C	2: 157,777,337 (GRCm39)	Y72H	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zbtb4	A	T	11: 69,667,255 (GRCm39)	R187*	probably null	Het
Zfp598	A	G	17: 24,896,517 (GRCm39)	D198G	probably damaging	Het
Zp2	G	T	7: 119,732,973 (GRCm39)	A629E	possibly damaging	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
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

2015-04-16