Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03388:Defa21'

420936

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa21

Ensembl Gene

ENSMUSG00000074447

Gene Name

defensin, alpha, 21

Synonyms

2010016B13Rik, Defcr21

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL03388

Quality Score

Status

Chromosome

Chromosomal Location

21515561-21516532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21515764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 54 (L54P)

Ref Sequence

ENSEMBL: ENSMUSP00000076041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076754]

AlphaFold

Q8C1P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000076754
AA Change: L54P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076041
Gene: ENSMUSG00000074447
AA Change: L54P

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.1e-24	PFAM
DEFSN	64	89	1.25e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,693,596 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,801 (GRCm39)	K340R	possibly damaging	Het
Ccr3	A	G	9: 123,828,658 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,992 (GRCm39)		probably benign	Het
Clasp1	T	A	1: 118,433,233 (GRCm39)	D237E	possibly damaging	Het
Ddx18	T	C	1: 121,493,652 (GRCm39)	K111E	possibly damaging	Het
Dennd3	T	C	15: 73,416,208 (GRCm39)	V486A	probably damaging	Het
Dnah9	T	A	11: 65,838,368 (GRCm39)	D3143V	probably damaging	Het
Dnm1l	A	G	16: 16,131,916 (GRCm39)		probably benign	Het
Epb41	T	C	4: 131,702,105 (GRCm39)	Y510C	probably damaging	Het
Fat4	T	C	3: 39,011,376 (GRCm39)	Y2159H	probably damaging	Het
Fmo1	A	G	1: 162,663,716 (GRCm39)	V271A	probably benign	Het
Gm12185	A	G	11: 48,799,113 (GRCm39)	V460A	probably benign	Het
Hspa8	T	C	9: 40,716,224 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,356 (GRCm39)	E166G	probably damaging	Het
Il31ra	C	A	13: 112,682,746 (GRCm39)	S120I	probably damaging	Het
Kdm5b	A	G	1: 134,555,060 (GRCm39)	T1323A	probably benign	Het
Lgals9	T	A	11: 78,854,247 (GRCm39)	I346F	probably damaging	Het
Lgi2	T	C	5: 52,695,819 (GRCm39)	D372G	probably damaging	Het
Magi3	A	C	3: 103,923,157 (GRCm39)	S1187A	probably benign	Het
Nr1d2	A	G	14: 18,215,403 (GRCm38)	F203S	probably benign	Het
Nup210l	G	A	3: 90,077,351 (GRCm39)	V896I	probably damaging	Het
Nxf7	T	C	X: 134,485,489 (GRCm39)	K440E	probably damaging	Het
Or6c206	A	T	10: 129,097,312 (GRCm39)	I161F	probably benign	Het
Or9i1b	T	A	19: 13,896,984 (GRCm39)	V200D	probably damaging	Het
Pcdhb6	T	C	18: 37,469,190 (GRCm39)	S20P	probably damaging	Het
Per2	G	T	1: 91,372,511 (GRCm39)		probably benign	Het
Pi15	G	A	1: 17,673,001 (GRCm39)	A67T	probably benign	Het
Pnp2	A	T	14: 51,200,995 (GRCm39)	N160I	probably damaging	Het
Ppp1r12c	A	G	7: 4,485,069 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,561,093 (GRCm39)		probably null	Het
Rnf115	G	A	3: 96,695,984 (GRCm39)	V257M	probably damaging	Het
Rtkn	T	A	6: 83,127,071 (GRCm39)	V346D	probably benign	Het
Rubcn	A	T	16: 32,661,938 (GRCm39)	N427K	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sel1l2	A	C	2: 140,105,284 (GRCm39)		probably benign	Het
Septin4	T	A	11: 87,459,042 (GRCm39)	L472*	probably null	Het
Slc5a5	A	G	8: 71,342,972 (GRCm39)	V196A	probably benign	Het
Sox13	A	T	1: 133,316,686 (GRCm39)	L207H	probably damaging	Het
Tmtc2	A	G	10: 105,157,344 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,720,907 (GRCm39)	K1409R	probably damaging	Het
Ttn	C	T	2: 76,797,481 (GRCm39)	A528T	probably benign	Het
Ubr4	T	C	4: 139,142,343 (GRCm39)	I1310T	probably damaging	Het
Ypel5	T	C	17: 73,153,400 (GRCm39)	F35L	probably damaging	Het
Zfp13	G	T	17: 23,795,888 (GRCm39)	R228S	probably benign	Het

Other mutations in Defa21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0035:Defa21	UTSW	8	21,515,784 (GRCm39)	splice site	probably null
R4588:Defa21	UTSW	8	21,515,664 (GRCm39)	missense	probably damaging	0.99
R5029:Defa21	UTSW	8	21,516,381 (GRCm39)	missense	probably damaging	0.98
R7107:Defa21	UTSW	8	21,515,724 (GRCm39)	missense	probably damaging	0.99
Z1176:Defa21	UTSW	8	21,515,739 (GRCm39)	missense	probably benign	0.41

Posted On

2016-08-02