Mutagenetix > Incidental Mutation

Incidental Mutation 'R8420:Exd2'

653156

Institutional Source

Beutler Lab

Gene Symbol

Exd2

Ensembl Gene

ENSMUSG00000032705

Gene Name

exonuclease 3'-5' domain containing 2

Synonyms

4930539P14Rik, Exdl2

MMRRC Submission

067773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R8420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80509869-80544909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80522771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 77 (R77G)

Ref Sequence

ENSEMBL: ENSMUSP00000043049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219272]

AlphaFold

Q8VEG4

Predicted Effect

probably benign
Transcript: ENSMUST00000038185
AA Change: R77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: R77G

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: ENSMUST00000219272

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,937,746 (GRCm39)	S11P	unknown	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Aph1b	A	G	9: 66,701,503 (GRCm39)	S45P	probably damaging	Het
Atp9b	A	T	18: 80,887,806 (GRCm39)	D321E		Het
C1qbp	A	G	11: 70,869,543 (GRCm39)	V180A	possibly damaging	Het
C4b	G	T	17: 34,953,513 (GRCm39)	A990D	probably damaging	Het
Ccdc80	T	A	16: 44,915,612 (GRCm39)	S123T	possibly damaging	Het
Cdh18	A	C	15: 23,474,138 (GRCm39)	E669D	possibly damaging	Het
Ceacam3	T	A	7: 16,895,608 (GRCm39)	V526D		Het
Cenpf	C	T	1: 189,404,782 (GRCm39)	C349Y	probably damaging	Het
Dmrt2	T	C	19: 25,655,379 (GRCm39)	V326A	probably damaging	Het
Dock9	T	C	14: 121,783,454 (GRCm39)	Q2023R	probably damaging	Het
Exph5	A	T	9: 53,287,148 (GRCm39)	K1410*	probably null	Het
Eya2	A	G	2: 165,608,988 (GRCm39)	T443A	probably damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Foxp2	G	T	6: 15,403,866 (GRCm39)	R381L	unknown	Het
Grm7	T	G	6: 111,057,315 (GRCm39)	V305G	probably benign	Het
Gzma	G	A	13: 113,237,464 (GRCm39)	R8W	probably benign	Het
H6pd	T	C	4: 150,066,133 (GRCm39)	E759G	probably benign	Het
Ift27	A	G	15: 78,048,391 (GRCm39)	V154A	probably benign	Het
Kif1a	A	T	1: 92,950,141 (GRCm39)	S1429T	probably benign	Het
Lrrn1	T	A	6: 107,546,294 (GRCm39)	D697E	probably benign	Het
Mcrs1	A	T	15: 99,141,575 (GRCm39)	I387N	probably damaging	Het
Muc16	T	C	9: 18,448,807 (GRCm39)	T7675A	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nid1	C	A	13: 13,612,416 (GRCm39)	L44I	possibly damaging	Het
Or2f2	A	T	6: 42,767,644 (GRCm39)	T224S	possibly damaging	Het
Or4m1	T	C	14: 50,558,233 (GRCm39)	T20A	probably benign	Het
Or5h27	A	G	16: 59,006,117 (GRCm39)	I243T	unknown	Het
Or8k1	T	A	2: 86,047,457 (GRCm39)	E199V	probably damaging	Het
Pde11a	C	T	2: 75,889,354 (GRCm39)	D707N	probably damaging	Het
Pigf	A	T	17: 87,327,910 (GRCm39)	L119*	probably null	Het
Pkd1l1	A	T	11: 8,820,277 (GRCm39)	C1679*	probably null	Het
Prnp	A	G	2: 131,778,669 (GRCm39)	N107S	probably benign	Het
Ptgfr	C	T	3: 151,541,053 (GRCm39)	V152M	possibly damaging	Het
Rap2b	A	G	3: 61,271,805 (GRCm39)		probably benign	Het
Rtn4	A	G	11: 29,657,300 (GRCm39)	T485A	probably damaging	Het
Sec23b	A	G	2: 144,401,234 (GRCm39)	T32A	probably benign	Het
Skint5	A	T	4: 113,437,679 (GRCm39)		probably null	Het
Slc13a5	A	G	11: 72,148,210 (GRCm39)	L275P	probably damaging	Het
Slc20a1	C	T	2: 129,041,784 (GRCm39)	A49V	probably damaging	Het
Slc35g2	A	G	9: 100,435,224 (GRCm39)	I149T	probably benign	Het
Syk	T	A	13: 52,778,763 (GRCm39)	I283K	probably benign	Het
Taf7l2	T	C	10: 115,948,440 (GRCm39)	Y362C	probably benign	Het
Tnfsf13b	G	A	8: 10,056,795 (GRCm39)		probably benign	Het
Ubr1	A	G	2: 120,701,476 (GRCm39)	V1592A	probably benign	Het
Vopp1	T	C	6: 57,739,379 (GRCm39)	*123W	probably null	Het
Xpo4	T	A	14: 57,841,913 (GRCm39)	Q467H	probably damaging	Het
Zdhhc22	A	C	12: 87,035,143 (GRCm39)	V103G	possibly damaging	Het
Zfp868	A	G	8: 70,064,160 (GRCm39)	S392P	probably damaging	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
R7776:Exd2	UTSW	12	80,539,334 (GRCm39)	missense	probably damaging	1.00
R8032:Exd2	UTSW	12	80,536,427 (GRCm39)	missense	probably benign	0.00
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'- GTGGCTTTGACAGTGACCAC -3'
(R):5'- CATTCACAGTCAATTCCAAGTACAGG -3'

Sequencing Primer
(F):5'- TGACAGTGACCACCCTTCTGG -3'
(R):5'- AGGGCTGGATTTGATTCC -3'

Posted On

2020-10-20