Mutagenetix > Incidental Mutations

Incidental Mutation 'R0738:Defa22'

70575

Institutional Source

Beutler Lab

Gene Symbol

Defa22

Ensembl Gene

ENSMUSG00000074443

Gene Name

defensin, alpha, 22

Synonyms

Defcr22

MMRRC Submission

038919-MU

Accession Numbers

Ncbi RefSeq: NM_207658.4; MGI:3639039

Is this an essential gene?

Probably non essential (E-score: 0.046) question?

Stock #

R0738 (G1)

Quality Score

100

Status

Not validated

Chromosome

Chromosomal Location

21162277-21163249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21162375 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 19 (T19I)

Ref Sequence

ENSEMBL: ENSMUSP00000096496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098897]

Predicted Effect

probably benign
Transcript: ENSMUST00000098897
AA Change: T19I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443
AA Change: T19I

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.1e-26	PFAM
DEFSN	64	89	1.46e-3	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,240,953	M189K	probably benign	Het
Ank1	A	T	8: 23,114,114	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,645,249		probably benign	Het
Cd9	G	T	6: 125,462,140	Q169K	probably benign	Het
Cdc42bpa	T	A	1: 179,999,462		probably benign	Het
Ch25h	T	C	19: 34,474,387	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,190,107		probably null	Het
Dscam	T	C	16: 96,819,781	N576D	possibly damaging	Het
Epha3	T	C	16: 63,595,612	M675V	probably damaging	Het
Fam241a	C	A	3: 127,870,793	A120S	possibly damaging	Het
Fkbp8	T	A	8: 70,529,670	I86N	probably damaging	Het
Herc4	C	T	10: 63,289,149	P514L	possibly damaging	Het
Ide	A	T	19: 37,277,965	L813*	probably null	Het
Igkv12-41	G	A	6: 69,858,691	Q26*	probably null	Het
Itsn2	T	C	12: 4,635,681	V483A	probably benign	Het
Kcp	A	T	6: 29,490,439	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,840,592	E389*	probably null	Het
Lrp6	G	T	6: 134,542,045	A19E	probably benign	Het
Mad1l1	A	G	5: 140,300,560	L228P	probably damaging	Het
Map2	T	C	1: 66,425,189		probably benign	Het
Med13l	T	A	5: 118,751,633	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,754,935	N735S	probably benign	Het
Mid2	A	G	X: 140,763,676	Y618C	probably damaging	Het
Mllt11	G	A	3: 95,220,286	Q58*	probably null	Het
Mttp	A	G	3: 138,103,313	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,697,910	S278P	probably damaging	Het
Ninj2	A	G	6: 120,198,137		probably benign	Het
Nsd3	T	A	8: 25,678,709		probably null	Het
Olfr1454	A	T	19: 13,063,738	E109V	probably damaging	Het
Olfr895	T	C	9: 38,269,125	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,308,711	N358S	probably damaging	Het
Plch1	T	C	3: 63,702,553		probably benign	Het
Popdc3	T	C	10: 45,315,258	L155P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,176,782	I24N	unknown	Het
Rc3h2	T	A	2: 37,405,374	D210V	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 83,998,996		probably benign	Het
Spopl	T	C	2: 23,537,521	T200A	probably benign	Het
Tarbp1	A	G	8: 126,438,801		probably null	Het
Thnsl1	T	A	2: 21,213,362	H121Q	probably damaging	Het
Tll1	T	C	8: 64,101,950	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,223,702	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,519,412	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,295,534	I46N	probably damaging	Het

Other mutations in Defa22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Defa22	APN	8	21163037	splice site	probably null
IGL01154:Defa22	APN	8	21163037	splice site	probably null
IGL01155:Defa22	APN	8	21163037	splice site	probably null
IGL02142:Defa22	APN	8	21163114	missense	possibly damaging	0.93
P0047:Defa22	UTSW	8	21163086	nonsense	probably null
PIT4696001:Defa22	UTSW	8	21162336	missense	probably damaging	0.99
R1266:Defa22	UTSW	8	21162368	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGAGTGCCTTCTCTAAGTGTGGACC -3'
(R):5'- CAGCCTTCAGCATGGACATTTCAAC -3'

Sequencing Primer
(F):5'- AAGTGTGGACCTTTCTCTGCC -3'
(R):5'- TAGAGTTGCCTTAGGAACCAC -3'

Posted On

2013-09-30