Mutagenetix > Incidental Mutation

Incidental Mutation 'R7776:Exd2'

598914

Institutional Source

Beutler Lab

Gene Symbol

Exd2

Ensembl Gene

ENSMUSG00000032705

Gene Name

exonuclease 3'-5' domain containing 2

Synonyms

4930539P14Rik, Exdl2

MMRRC Submission

045832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80509869-80544909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80539334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 466 (H466Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219039]

AlphaFold

Q8VEG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000038185
AA Change: H466Q

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

SMART Domains

Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: H466Q

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	40	72	N/A	INTRINSIC
35EXOc	105	291	3.8e-10	SMART
Blast:HNHc	438	492	1e-6	BLAST
low complexity region	517	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219039

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,832,214 (GRCm39)		probably null	Het
Abca3	T	A	17: 24,605,250 (GRCm39)	V716D	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Alkbh1	A	G	12: 87,478,215 (GRCm39)	V232A	probably damaging	Het
Arhgef10l	T	A	4: 140,302,642 (GRCm39)	I271F	probably damaging	Het
Aspm	T	A	1: 139,407,584 (GRCm39)	M2157K	possibly damaging	Het
Capn13	G	A	17: 73,629,049 (GRCm39)	S586L	probably benign	Het
Cd3g	A	T	9: 44,885,459 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,704,603 (GRCm39)	Y2826N	unknown	Het
Cmas	T	C	6: 142,710,283 (GRCm39)	V134A	probably damaging	Het
Cnp	A	G	11: 100,469,814 (GRCm39)	H250R	probably damaging	Het
Dact1	G	A	12: 71,364,688 (GRCm39)	A453T	probably benign	Het
Dcaf6	T	A	1: 165,179,623 (GRCm39)	R506*	probably null	Het
Dph1	A	G	11: 75,081,272 (GRCm39)	V5A	probably benign	Het
Entpd3	A	G	9: 120,387,568 (GRCm39)	Y255C	probably damaging	Het
Etl4	A	T	2: 20,811,957 (GRCm39)	T1715S	probably damaging	Het
Fbln2	A	G	6: 91,246,181 (GRCm39)	N1056S	probably damaging	Het
Fcrl5	A	T	3: 87,351,502 (GRCm39)	Q250L	possibly damaging	Het
Fignl2	A	G	15: 100,951,301 (GRCm39)	V327A	unknown	Het
Gm10226	T	A	17: 21,910,866 (GRCm39)	C34S	possibly damaging	Het
H2bc6	A	T	13: 23,769,938 (GRCm39)	M1K	probably null	Het
Kdm6b	A	G	11: 69,296,960 (GRCm39)	S436P	possibly damaging	Het
Lmnb2	G	T	10: 80,753,991 (GRCm39)	A21E	possibly damaging	Het
Mcf2l	A	T	8: 12,930,127 (GRCm39)	E49V	probably benign	Het
Muc2	A	G	7: 141,290,942 (GRCm39)	E76G		Het
Naa60	T	C	16: 3,718,573 (GRCm39)	I135T	probably benign	Het
Neb	T	C	2: 52,097,713 (GRCm39)	Y4924C	possibly damaging	Het
Nlrp10	T	A	7: 108,524,656 (GRCm39)	I275F	probably damaging	Het
Nr3c2	T	C	8: 77,636,174 (GRCm39)	V425A	possibly damaging	Het
Nucb2	T	A	7: 116,128,248 (GRCm39)	D286E	probably damaging	Het
Nynrin	G	A	14: 56,103,420 (GRCm39)	G755S	probably damaging	Het
Or5d41	T	C	2: 88,054,429 (GRCm39)	T316A	probably damaging	Het
Padi2	T	A	4: 140,651,656 (GRCm39)	D135E	probably benign	Het
Pcdha6	T	A	18: 37,103,034 (GRCm39)	S742R	probably benign	Het
Pcdhgb5	T	A	18: 37,866,007 (GRCm39)	S601T	probably damaging	Het
Pira13	T	C	7: 3,826,246 (GRCm39)	N249S	unknown	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prr15l	T	C	11: 96,825,390 (GRCm39)	W7R	possibly damaging	Het
Ptpn23	G	A	9: 110,215,368 (GRCm39)	H1431Y	possibly damaging	Het
Rnf20	C	T	4: 49,644,592 (GRCm39)	Q286*	probably null	Het
Rptor	T	C	11: 119,783,453 (GRCm39)	I1149T	probably benign	Het
Sfrp2	A	G	3: 83,674,086 (GRCm39)	I80V	probably benign	Het
Slc38a2	T	C	15: 96,588,033 (GRCm39)	D497G	probably benign	Het
Slc43a1	T	A	2: 84,671,197 (GRCm39)	M44K	probably damaging	Het
Stil	T	A	4: 114,890,035 (GRCm39)	V841E	possibly damaging	Het
Stip1	T	A	19: 6,999,141 (GRCm39)	H479L	probably benign	Het
Supt6	A	G	11: 78,100,355 (GRCm39)	Y1486H	probably damaging	Het
Taf6	T	C	5: 138,180,282 (GRCm39)	D324G	probably damaging	Het
Tgif1	T	A	17: 71,158,452 (GRCm39)		probably benign	Het
Tmprss11f	T	C	5: 86,681,605 (GRCm39)	E216G	probably benign	Het
Tmprss7	C	A	16: 45,488,014 (GRCm39)	A472S	probably benign	Het
Trpm1	T	A	7: 63,897,939 (GRCm39)	F1191I	probably benign	Het
Tspan12	T	A	6: 21,836,442 (GRCm39)	N40I	probably damaging	Het
Ttll3	AAGTA	AAGTACAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Unc13c	A	T	9: 73,602,232 (GRCm39)	I1338N	probably damaging	Het
Vegfc	T	A	8: 54,530,835 (GRCm39)	S8T	unknown	Het
Vmn1r59	T	A	7: 5,457,634 (GRCm39)	Q42L	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,043,934 (GRCm39)	I337F	probably damaging	Het
Xylb	G	A	9: 119,209,766 (GRCm39)		probably null	Het
Zfp551	T	A	7: 12,152,569 (GRCm39)	I55F	probably damaging	Het
Zfp972	T	C	2: 177,563,532 (GRCm39)	N27S	probably benign	Het

Other mutations in Exd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Exd2	APN	12	80,522,940 (GRCm39)	missense	probably damaging	1.00
IGL00546:Exd2	APN	12	80,527,321 (GRCm39)	missense	probably benign	0.05
IGL02964:Exd2	APN	12	80,527,302 (GRCm39)	missense	probably damaging	0.99
IGL03036:Exd2	APN	12	80,536,185 (GRCm39)	missense	probably damaging	1.00
R0304:Exd2	UTSW	12	80,538,014 (GRCm39)	unclassified	probably benign
R0436:Exd2	UTSW	12	80,537,544 (GRCm39)	splice site	probably benign
R1290:Exd2	UTSW	12	80,531,100 (GRCm39)	missense	probably benign	0.00
R1772:Exd2	UTSW	12	80,536,253 (GRCm39)	missense	probably benign	0.00
R2102:Exd2	UTSW	12	80,527,377 (GRCm39)	missense	possibly damaging	0.78
R2104:Exd2	UTSW	12	80,543,575 (GRCm39)	missense	probably benign	0.01
R2408:Exd2	UTSW	12	80,531,015 (GRCm39)	splice site	probably benign
R3693:Exd2	UTSW	12	80,527,467 (GRCm39)	missense	probably damaging	1.00
R4748:Exd2	UTSW	12	80,527,350 (GRCm39)	missense	probably damaging	1.00
R4773:Exd2	UTSW	12	80,522,592 (GRCm39)	missense	possibly damaging	0.46
R5022:Exd2	UTSW	12	80,543,564 (GRCm39)	missense	probably damaging	1.00
R5057:Exd2	UTSW	12	80,543,564 (GRCm39)	missense	probably damaging	1.00
R5179:Exd2	UTSW	12	80,531,118 (GRCm39)	missense	probably damaging	1.00
R5377:Exd2	UTSW	12	80,536,222 (GRCm39)	missense	probably damaging	1.00
R7246:Exd2	UTSW	12	80,527,309 (GRCm39)	missense	probably damaging	1.00
R7761:Exd2	UTSW	12	80,522,546 (GRCm39)	missense	probably damaging	0.98
R8032:Exd2	UTSW	12	80,536,427 (GRCm39)	missense	probably benign	0.00
R8420:Exd2	UTSW	12	80,522,771 (GRCm39)	missense	probably benign
R8559:Exd2	UTSW	12	80,522,631 (GRCm39)	missense	probably benign	0.00
R9064:Exd2	UTSW	12	80,531,148 (GRCm39)	critical splice donor site	probably null
R9173:Exd2	UTSW	12	80,536,236 (GRCm39)	missense	probably benign	0.00
R9274:Exd2	UTSW	12	80,539,674 (GRCm39)	critical splice donor site	probably null
R9674:Exd2	UTSW	12	80,536,372 (GRCm39)	missense	probably benign	0.00
RF013:Exd2	UTSW	12	80,522,706 (GRCm39)	frame shift	probably null
RF015:Exd2	UTSW	12	80,522,691 (GRCm39)	intron	probably benign
RF022:Exd2	UTSW	12	80,522,691 (GRCm39)	intron	probably benign
RF023:Exd2	UTSW	12	80,522,689 (GRCm39)	intron	probably benign
RF025:Exd2	UTSW	12	80,522,729 (GRCm39)	intron	probably benign
RF029:Exd2	UTSW	12	80,522,720 (GRCm39)	frame shift	probably null
RF035:Exd2	UTSW	12	80,522,729 (GRCm39)	intron	probably benign
RF035:Exd2	UTSW	12	80,522,674 (GRCm39)	intron	probably benign
RF039:Exd2	UTSW	12	80,522,715 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACGTAGTCTGCACTTACTTTAAGG -3'
(R):5'- TCTAAGTCTTCCAGCAGGCG -3'

Sequencing Primer
(F):5'- CTGCACTTACTTTAAGGGAGAAGACC -3'
(R):5'- GTAGGCCCTCCTCTGAGC -3'

Posted On

2019-11-26