Mutagenetix > Incidental Mutation

Incidental Mutation 'R8271:Defb22'

637699

Institutional Source

Beutler Lab

Gene Symbol

Defb22

Ensembl Gene

ENSMUSG00000027468

Gene Name

defensin beta 22

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152485663-152490138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152485792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 158 (V158I)

Ref Sequence

ENSEMBL: ENSMUSP00000028966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028966]

AlphaFold

Q8BVC1

Predicted Effect

unknown
Transcript: ENSMUST00000028966
AA Change: V158I

SMART Domains

Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468
AA Change: V158I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Defensin_beta_2	26	59	4e-11	PFAM
low complexity region	89	150	N/A	INTRINSIC

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,686,212	I202L	probably benign	Het
Acadsb	A	T	7: 131,443,694	T452S	unknown	Het
Ago2	A	T	15: 73,119,466	L541Q	probably damaging	Het
Ap2a2	A	T	7: 141,620,899	E553V	probably damaging	Het
Astn2	T	C	4: 65,992,426	K442E	unknown	Het
Bicd1	A	G	6: 149,513,135	T449A	probably benign	Het
Btn1a1	T	A	13: 23,461,749	Q150L	probably benign	Het
C1ra	G	A	6: 124,522,651	G599R	probably damaging	Het
Camta2	T	A	11: 70,671,060	Q1076L	probably benign	Het
Capza2	T	A	6: 17,657,215	C157S	probably damaging	Het
Ccnk	A	G	12: 108,195,855		probably benign	Het
Chd3	T	A	11: 69,360,657	D516V	probably damaging	Het
Cntnap5b	A	G	1: 100,072,107	T197A	probably benign	Het
Comp	A	G	8: 70,376,460	N260S	probably damaging	Het
Dcp1a	A	G	14: 30,522,926	T570A	possibly damaging	Het
Ddx60	T	A	8: 61,940,108		probably null	Het
Diaph3	T	C	14: 86,866,513	S812G	probably damaging	Het
Dohh	G	T	10: 81,386,010	Q79H	probably benign	Het
Dyrk1b	T	G	7: 28,182,655	V147G	probably benign	Het
Fastkd2	C	T	1: 63,748,024	T539I	probably benign	Het
Gm7534	G	T	4: 134,202,967	T9K	unknown	Het
Itpr3	G	A	17: 27,087,648	D229N	probably damaging	Het
Kcnv1	A	T	15: 45,109,358	D376E	probably benign	Het
Kif13a	C	A	13: 46,752,581	V1577F	probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Mcoln2	A	C	3: 146,192,424	N100T	unknown	Het
Mdh1b	C	T	1: 63,720,005	V143M	possibly damaging	Het
Mfsd4b4	G	T	10: 39,892,105	Q377K	probably benign	Het
Mpv17l	T	C	16: 13,944,720	F122S	probably damaging	Het
Mylk	T	C	16: 34,922,579	S1154P	probably damaging	Het
Myo5b	A	G	18: 74,627,190	Y259C	probably damaging	Het
Nek1	G	A	8: 61,105,612	V931M	probably benign	Het
Nkd2	C	A	13: 73,821,318	G343V	probably damaging	Het
Obox8	T	A	7: 14,332,003	T197S	probably benign	Het
Olfr1029	T	C	2: 85,975,422	Y60H	probably damaging	Het
Olfr1029	T	G	2: 85,975,741	M166R	probably benign	Het
Olfr1086	T	A	2: 86,676,874	H153L	probably benign	Het
Olfr1272	A	G	2: 90,282,272	F101S	possibly damaging	Het
Olfr16	T	A	1: 172,957,177	C127*	probably null	Het
Olfr309	G	A	7: 86,306,754	R120C	probably benign	Het
Olfr480	A	G	7: 108,065,773	S342P	probably damaging	Het
Palb2	A	T	7: 122,124,874	S551T	probably damaging	Het
Pcdha12	T	A	18: 37,021,900	D557E	probably damaging	Het
Pcdhb21	T	A	18: 37,515,868	D683E	probably benign	Het
Plekhb1	A	G	7: 100,656,729		probably benign	Het
Plekhg5	A	G	4: 152,103,007	N90D	probably damaging	Het
Pnpla1	A	G	17: 28,881,605	D482G	probably benign	Het
Rc3h1	A	T	1: 160,940,759		probably benign	Het
Rfpl4	C	T	7: 5,110,540	R214H	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Setd5	T	C	6: 113,115,070	I284T	possibly damaging	Het
Smurf1	C	T	5: 144,894,087	E293K	possibly damaging	Het
Tas2r106	A	T	6: 131,678,060	I276N	probably damaging	Het
Tbc1d2	C	A	4: 46,649,791	A82S	possibly damaging	Het
Tex19.2	A	G	11: 121,117,184	I146T	possibly damaging	Het
Tmem107	T	G	11: 69,071,455	N79K	probably damaging	Het
Tpsab1	A	T	17: 25,345,331	S50T	probably benign	Het
Ttn	T	A	2: 76,723,250	K31008*	probably null	Het
Ubox5	T	C	2: 130,599,709	T353A	probably benign	Het
Usp24	T	A	4: 106,428,514	H2445Q	probably damaging	Het
Uvrag	T	C	7: 98,888,491	D499G	probably benign	Het
Xndc1	A	T	7: 102,079,136	N247I	possibly damaging	Het
Yipf2	A	T	9: 21,589,995	W226R	probably damaging	Het
Zfp335	T	A	2: 164,898,053	Q793L	probably damaging	Het
Zfp385c	A	G	11: 100,657,465	S54P	probably damaging	Het

Other mutations in Defb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Defb22	APN	2	152486079	missense	possibly damaging	0.93
IGL02040:Defb22	APN	2	152490056	missense	possibly damaging	0.83
IGL03159:Defb22	APN	2	152490075	missense	probably benign	0.00
R5153:Defb22	UTSW	2	152485802	missense	unknown
R5387:Defb22	UTSW	2	152485906	missense	unknown
R6141:Defb22	UTSW	2	152485802	missense	unknown
R7153:Defb22	UTSW	2	152485920	missense	unknown
R7385:Defb22	UTSW	2	152486197	missense	probably damaging	0.99
R7650:Defb22	UTSW	2	152486103	missense	probably benign	0.40
R7671:Defb22	UTSW	2	152486030	missense	unknown
R8242:Defb22	UTSW	2	152486087	missense	probably damaging	0.99
R9224:Defb22	UTSW	2	152485801	missense	unknown
R9706:Defb22	UTSW	2	152485900	missense	unknown
RF013:Defb22	UTSW	2	152485831	small insertion	probably benign
RF021:Defb22	UTSW	2	152485832	small insertion	probably benign
RF025:Defb22	UTSW	2	152485823	small insertion	probably benign
RF025:Defb22	UTSW	2	152485824	small insertion	probably benign
RF029:Defb22	UTSW	2	152485833	small insertion	probably benign
RF034:Defb22	UTSW	2	152485832	small insertion	probably benign
RF041:Defb22	UTSW	2	152485823	small insertion	probably benign
RF043:Defb22	UTSW	2	152485833	small insertion	probably benign
RF062:Defb22	UTSW	2	152485825	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCTGGAACTGCCACAAGTG -3'
(R):5'- CACTGCTGCAATGGTTGGTG -3'

Sequencing Primer
(F):5'- CAGGGTGACTTGGCAAACGTG -3'
(R):5'- GCTGCTGCAATGGCTGG -3'

Posted On

2020-07-28