Mutagenetix > Incidental Mutation

Incidental Mutation 'R9232:Defb43'

700316

Institutional Source

Beutler Lab

Gene Symbol

Defb43

Ensembl Gene

ENSMUSG00000075572

Gene Name

defensin beta 43

Synonyms

EG654458

MMRRC Submission

068986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63249220-63255537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63255281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 38 (K38R)

Ref Sequence

ENSEMBL: ENSMUSP00000098060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100491]

AlphaFold

Q30KM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000100491
AA Change: K38R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098060
Gene: ENSMUSG00000075572
AA Change: K38R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta_2	28	56	2.9e-10	PFAM
low complexity region	59	67	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	A	T	18: 10,652,198 (GRCm39)	S278T	probably benign	Het
Adgrf1	T	C	17: 43,621,295 (GRCm39)	Y511H	probably benign	Het
Atp5pd	A	G	11: 115,309,221 (GRCm39)	F38S	probably benign	Het
Cdc6	T	G	11: 98,801,201 (GRCm39)	S151A	probably benign	Het
Ceacam12	T	A	7: 17,803,341 (GRCm39)	M249K	probably benign	Het
Cenpt	T	C	8: 106,571,793 (GRCm39)	Q446R	probably damaging	Het
Cnnm1	T	A	19: 43,480,325 (GRCm39)	S883T	probably benign	Het
Cntn6	T	C	6: 104,815,781 (GRCm39)	W721R	probably damaging	Het
Eif2a	T	C	3: 58,463,022 (GRCm39)	S522P	probably benign	Het
Erap1	T	G	13: 74,811,637 (GRCm39)	S332R	probably benign	Het
Foxa3	C	A	7: 18,748,790 (GRCm39)	R112L	probably damaging	Het
Foxf1	T	A	8: 121,811,715 (GRCm39)	M193K	possibly damaging	Het
Gbp11	T	C	5: 105,476,290 (GRCm39)	Y273C	possibly damaging	Het
Gli2	T	A	1: 118,764,021 (GRCm39)	T1377S	probably benign	Het
Gm10271	T	A	10: 116,808,479 (GRCm39)	L12F	probably damaging	Het
Grm5	G	A	7: 87,723,591 (GRCm39)	G627D	probably damaging	Het
Gtf3c4	A	G	2: 28,724,848 (GRCm39)	S295P	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Iqch	T	A	9: 63,329,200 (GRCm39)	M1045L	probably benign	Het
Kcnt2	T	C	1: 140,411,931 (GRCm39)	S455P	possibly damaging	Het
Kif26b	G	A	1: 178,742,511 (GRCm39)	G869E	probably damaging	Het
Kit	A	G	5: 75,799,792 (GRCm39)	N508S	probably benign	Het
Lgals8	C	T	13: 12,469,777 (GRCm39)	V61M	probably damaging	Het
Lztr1	T	C	16: 17,339,343 (GRCm39)	V392A	possibly damaging	Het
Mad1l1	T	A	5: 140,091,296 (GRCm39)	M524L	probably benign	Het
Mob3b	T	C	4: 34,986,101 (GRCm39)	N146D	probably benign	Het
Muc16	T	C	9: 18,567,336 (GRCm39)	T1728A	unknown	Het
Nlgn2	T	C	11: 69,718,855 (GRCm39)	H278R	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Plce1	A	G	19: 38,705,423 (GRCm39)	M943V	probably benign	Het
Pramel25	T	G	4: 143,520,263 (GRCm39)	L169R	probably benign	Het
Proser2	A	G	2: 6,106,015 (GRCm39)	L183P	probably benign	Het
Prss36	T	C	7: 127,543,988 (GRCm39)	I128V	probably benign	Het
Rabggta	C	T	14: 55,956,745 (GRCm39)	V320I	probably benign	Het
Sepsecs	A	G	5: 52,823,344 (GRCm39)	V125A	probably benign	Het
Sik3	C	T	9: 46,123,216 (GRCm39)	P1005L	probably benign	Het
Slc22a20	A	T	19: 6,023,009 (GRCm39)	I378N	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tap1	T	C	17: 34,412,277 (GRCm39)	V494A	probably benign	Het
Tg	A	G	15: 66,570,310 (GRCm39)	D1394G	probably benign	Het
Tgfbr3	T	C	5: 107,290,361 (GRCm39)	T315A	possibly damaging	Het
Tmc2	A	G	2: 130,085,049 (GRCm39)	T559A	probably damaging	Het
Tph1	A	G	7: 46,311,529 (GRCm39)	I71T	probably benign	Het
Trib3	A	T	2: 152,184,962 (GRCm39)	C96S	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trim56	A	G	5: 137,141,632 (GRCm39)	V628A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Tuft1	T	C	3: 94,529,445 (GRCm39)	Q244R	probably benign	Het
Unc13b	A	G	4: 43,240,321 (GRCm39)	T793A	probably benign	Het
Vmn1r39	A	G	6: 66,781,580 (GRCm39)	I246T	possibly damaging	Het
Xpo1	T	C	11: 23,232,646 (GRCm39)	S389P	probably benign	Het
Zdbf2	T	C	1: 63,347,168 (GRCm39)	F1849S	possibly damaging	Het

Other mutations in Defb43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02177:Defb43	APN	14	63,249,266 (GRCm39)	missense	probably benign	0.22
IGL03256:Defb43	APN	14	63,255,329 (GRCm39)	missense	probably damaging	0.98
R0671:Defb43	UTSW	14	63,249,287 (GRCm39)	missense	probably damaging	0.99
R1967:Defb43	UTSW	14	63,255,246 (GRCm39)	missense	probably benign	0.00
R6475:Defb43	UTSW	14	63,249,321 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TACATGAAGACCAAGCTGCC -3'
(R):5'- TCGTGAAGTTCCTGTTACTCATCATAC -3'

Sequencing Primer
(F):5'- CCAAGCTGCCATACACAAATTTTTG -3'
(R):5'- GACAGAGCTCAACATGTCA -3'

Posted On

2022-02-07