Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02140:Defa27'

281491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa27

Ensembl Gene

ENSMUSG00000082211

Gene Name

defensin, alpha, 27

Synonyms

Gm15299, ENSMUSG00000074438

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL02140

Quality Score

Status

Chromosome

Chromosomal Location

21805562-21806403 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21805674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 13 (K13*)

Ref Sequence

ENSEMBL: ENSMUSP00000131618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167683] [ENSMUST00000168340]

AlphaFold

F2Z403

Predicted Effect

probably damaging
Transcript: ENSMUST00000167683
AA Change: E38V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126797
Gene: ENSMUSG00000082211
AA Change: E38V

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	52	3.6e-27	PFAM
DEFSN	64	92	8.56e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168340
AA Change: K13*

SMART Domains

Protein: ENSMUSP00000131618
Gene: ENSMUSG00000082211
AA Change: K13*

Domain	Start	End	E-Value	Type
DEFSN	37	65	8.56e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,195,034 (GRCm39)	V144I	probably benign	Het
B3gat1	A	G	9: 26,669,043 (GRCm39)	K325E	possibly damaging	Het
Cd36	T	A	5: 18,033,766 (GRCm39)		probably benign	Het
Ces3a	A	G	8: 105,782,263 (GRCm39)	E325G	probably benign	Het
Col1a2	G	A	6: 4,515,639 (GRCm39)	G136D	unknown	Het
Cyp3a25	T	G	5: 145,946,273 (GRCm39)		probably benign	Het
Cyp3a59	T	C	5: 146,039,690 (GRCm39)	L321P	probably damaging	Het
Dag1	A	G	9: 108,095,391 (GRCm39)	S34P	probably damaging	Het
Disp2	T	C	2: 118,621,350 (GRCm39)	F694S	probably benign	Het
Dnah12	G	T	14: 26,437,732 (GRCm39)	A454S	probably benign	Het
Dync2h1	A	T	9: 7,147,791 (GRCm39)	D946E	probably benign	Het
Fcgbp	A	G	7: 27,791,379 (GRCm39)	E880G	probably damaging	Het
Fgfr4	T	C	13: 55,308,992 (GRCm39)	V371A	probably benign	Het
Frem3	G	T	8: 81,340,736 (GRCm39)	V1010F	possibly damaging	Het
Gm13283	G	A	4: 88,679,272 (GRCm39)	V88I	probably benign	Het
Gm5134	G	A	10: 75,821,945 (GRCm39)	V260I	probably benign	Het
Grhl2	A	G	15: 37,270,830 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,820,920 (GRCm39)	W1090R	probably damaging	Het
Hydin	G	A	8: 111,293,570 (GRCm39)	V3506I	probably benign	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Iglv3	T	A	16: 19,060,160 (GRCm39)	Q56L	probably damaging	Het
Impg2	T	A	16: 56,079,831 (GRCm39)	M436K	probably benign	Het
Kcnma1	T	A	14: 23,359,113 (GRCm39)	K1110N	probably damaging	Het
Marf1	T	C	16: 13,959,776 (GRCm39)	E694G	probably damaging	Het
Nup37	A	C	10: 87,994,791 (GRCm39)	K118T	probably benign	Het
Or10al7	A	G	17: 38,366,481 (GRCm39)	M1T	probably null	Het
Or4a73	T	C	2: 89,420,586 (GRCm39)	E291G	probably damaging	Het
P3h1	A	G	4: 119,095,062 (GRCm39)	D273G	probably damaging	Het
Pcsk9	T	C	4: 106,311,843 (GRCm39)	D178G	probably benign	Het
Phyhipl	T	C	10: 70,406,660 (GRCm39)	K53R	probably damaging	Het
Pkp3	T	G	7: 140,669,249 (GRCm39)	L697R	probably damaging	Het
Rab11fip3	A	G	17: 26,286,866 (GRCm39)	V429A	probably benign	Het
Rgl2	A	G	17: 34,152,098 (GRCm39)	N295S	probably damaging	Het
Spag5	A	T	11: 78,206,459 (GRCm39)	D817V	possibly damaging	Het
Tas2r117	C	A	6: 132,780,558 (GRCm39)	T232K	probably benign	Het
Thumpd1	A	G	7: 119,316,232 (GRCm39)	V239A	possibly damaging	Het
Timd4	T	A	11: 46,710,841 (GRCm39)	S248T	possibly damaging	Het
Tmem207	A	T	16: 26,335,490 (GRCm39)	N82K	probably benign	Het
Ttn	T	A	2: 76,538,557 (GRCm39)	T34714S	possibly damaging	Het
Vmn1r194	G	A	13: 22,428,706 (GRCm39)	V108I	probably benign	Het
Vmn2r24	T	A	6: 123,757,631 (GRCm39)	S166R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,696 (GRCm39)	F159S	probably damaging	Het
Wdr72	A	T	9: 74,117,505 (GRCm39)	Q739L	probably benign	Het

Other mutations in Defa27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02988:Defa27	APN	8	21,805,583 (GRCm39)	missense	probably damaging	1.00
R4281:Defa27	UTSW	8	21,805,632 (GRCm39)	missense	probably benign	0.28
R4282:Defa27	UTSW	8	21,805,632 (GRCm39)	missense	probably benign	0.28
R4283:Defa27	UTSW	8	21,805,632 (GRCm39)	missense	probably benign	0.28
R4357:Defa27	UTSW	8	21,805,608 (GRCm39)	missense	probably null	1.00
R5401:Defa27	UTSW	8	21,805,710 (GRCm39)	missense	possibly damaging	0.89
R6550:Defa27	UTSW	8	21,806,340 (GRCm39)	missense	possibly damaging	0.71
R7232:Defa27	UTSW	8	21,805,625 (GRCm39)	missense	probably damaging	0.99
R7631:Defa27	UTSW	8	21,805,657 (GRCm39)	missense	probably benign
R7795:Defa27	UTSW	8	21,806,354 (GRCm39)	missense	probably benign	0.01
Z1176:Defa27	UTSW	8	21,805,614 (GRCm39)	missense	probably damaging	1.00
Z1176:Defa27	UTSW	8	21,805,613 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16