Mutagenetix > Incidental Mutation

Incidental Mutation 'R4111:Defa39'

317309

Institutional Source

Beutler Lab

Gene Symbol

Defa39

Ensembl Gene

ENSMUSG00000058618

Gene Name

defensin, alpha, 39

Synonyms

CRS1C-3, AY761184

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4111 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22192540-22193663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22192679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000071783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071886]

AlphaFold

Q9D848

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071886
AA Change: T106A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071783
Gene: ENSMUSG00000058618
AA Change: T106A

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	1.8e-23	PFAM
low complexity region	67	91	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158155

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Ambra1	T	C	2: 91,730,903 (GRCm39)	S894P	probably damaging	Het
Arhgef12	C	A	9: 42,883,570 (GRCm39)	G1320C	probably damaging	Het
Atg7	G	C	6: 114,690,255 (GRCm39)	G596R	probably damaging	Het
Birc6	T	C	17: 74,873,010 (GRCm39)	V423A	probably damaging	Het
Bltp3a	T	A	17: 28,105,064 (GRCm39)	L586*	probably null	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Ctu2	G	A	8: 123,203,256 (GRCm39)	R24Q	possibly damaging	Het
Dclk3	T	C	9: 111,298,148 (GRCm39)	I564T	probably damaging	Het
Ddx39b	T	A	17: 35,462,340 (GRCm39)	I42N	possibly damaging	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dzip1	T	A	14: 119,114,645 (GRCm39)	K837*	probably null	Het
Epha1	G	A	6: 42,335,772 (GRCm39)	T955M	possibly damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,098 (GRCm39)	Y23H	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm5611	T	A	9: 16,941,989 (GRCm39)		noncoding transcript	Het
Gpr37l1	T	C	1: 135,095,008 (GRCm39)	T79A	possibly damaging	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,472,714 (GRCm39)	Y234F	probably damaging	Het
Ifnar1	C	A	16: 91,293,046 (GRCm39)	P230T	probably damaging	Het
Impact	T	C	18: 13,109,090 (GRCm39)		probably null	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Lrpprc	G	A	17: 85,033,766 (GRCm39)	T1037M	probably benign	Het
Or10g9	C	A	9: 39,912,194 (GRCm39)	E110*	probably null	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or5an6	T	C	19: 12,371,665 (GRCm39)	F13L	probably damaging	Het
Or6n2	T	A	1: 173,896,999 (GRCm39)	I45N	probably damaging	Het
Pask	A	G	1: 93,238,540 (GRCm39)	V1315A	probably damaging	Het
Pramel16	T	A	4: 143,676,475 (GRCm39)	I210F	possibly damaging	Het
Prl7a2	A	T	13: 27,849,050 (GRCm39)	Y80N	possibly damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rtn2	T	C	7: 19,020,769 (GRCm39)	S81P	probably damaging	Het
Sbf2	G	A	7: 110,027,449 (GRCm39)	P470S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sox30	A	G	11: 45,908,041 (GRCm39)	Y736C	probably benign	Het
Srsf3-ps	A	T	11: 98,516,223 (GRCm39)	V50D	probably damaging	Het
Synj2	G	A	17: 6,058,240 (GRCm39)	G243S	probably benign	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Tns1	T	C	1: 73,981,091 (GRCm39)	N1091S	probably damaging	Het
Trappc10	A	G	10: 78,032,264 (GRCm39)	F1008S	probably benign	Het
Ube4a	T	A	9: 44,860,247 (GRCm39)	I272F	probably damaging	Het
Vmn1r122	A	T	7: 20,867,438 (GRCm39)	S206T	probably damaging	Het
Vmn2r1	A	C	3: 63,997,176 (GRCm39)	K277N	probably benign	Het
Vps13a	T	C	19: 16,617,992 (GRCm39)	E2931G	probably damaging	Het
Wdr70	G	T	15: 8,006,472 (GRCm39)	Q360K	probably benign	Het
Wdr90	G	T	17: 26,068,342 (GRCm39)	Q1329K	possibly damaging	Het
Wrn	T	C	8: 33,842,183 (GRCm39)	N37S	probably benign	Het
Yap1	A	T	9: 7,938,432 (GRCm39)	*358K	probably null	Het
Zfp964	T	A	8: 70,116,754 (GRCm39)	S450R	probably benign	Het
Zkscan2	T	C	7: 123,081,907 (GRCm39)		probably benign	Het
Zmynd10	A	T	9: 107,426,251 (GRCm39)	K133*	probably null	Het

Other mutations in Defa39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03255:Defa39	APN	8	22,193,534 (GRCm39)	missense	possibly damaging	0.71
R2090:Defa39	UTSW	8	22,192,805 (GRCm39)	missense	possibly damaging	0.96
R2426:Defa39	UTSW	8	22,192,653 (GRCm39)	missense	possibly damaging	0.72
R6339:Defa39	UTSW	8	22,193,485 (GRCm39)	missense	possibly damaging	0.86
R7874:Defa39	UTSW	8	22,192,812 (GRCm39)	missense	possibly damaging	0.53
R8851:Defa39	UTSW	8	22,193,555 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CTACAGGGATTAGAAGAGACCTTTCG -3'
(R):5'- GCTGGCCTCCTTACTTAATACG -3'

Sequencing Primer
(F):5'- TAGAAGAGACCTTTCGAAGATACC -3'
(R):5'- GGCCTCCTTACTTAATACGTGATG -3'

Posted On

2015-05-15