Mutagenetix > Incidental Mutation

Incidental Mutation 'R6585:Defa38'

524344

Institutional Source

Beutler Lab

Gene Symbol

Defa38

Ensembl Gene

ENSMUSG00000061958

Gene Name

defensin, alpha, 38

Synonyms

Gm14851

MMRRC Submission

044709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6585 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21585090-21586066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21585248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 65 (C65R)

Ref Sequence

ENSEMBL: ENSMUSP00000076665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077452]

AlphaFold

Q5ERJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077452
AA Change: C65R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076665
Gene: ENSMUSG00000061958
AA Change: C65R

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	5.1e-25	PFAM
low complexity region	67	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177901

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,885,534 (GRCm39)	C108Y	probably damaging	Het
Adam1b	G	T	5: 121,639,250 (GRCm39)	D598E	probably benign	Het
Agr2	G	A	12: 36,045,625 (GRCm39)	R37Q	probably benign	Het
Ascc3	A	G	10: 50,718,273 (GRCm39)	K1989E	probably benign	Het
Chd1l	A	G	3: 97,505,088 (GRCm39)	F160L	probably damaging	Het
Ciita	T	A	16: 10,329,609 (GRCm39)	V628E	probably benign	Het
Dis3l2	T	A	1: 86,673,216 (GRCm39)	I69N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Elp2	T	C	18: 24,758,606 (GRCm39)	L503S	probably damaging	Het
Fcgbp	A	T	7: 27,813,404 (GRCm39)	Q2313L	possibly damaging	Het
Gpr155	A	T	2: 73,179,989 (GRCm39)	I157N	probably damaging	Het
H2bc18	A	T	3: 96,177,413 (GRCm39)	T116S	probably benign	Het
Kcnj1	T	C	9: 32,308,557 (GRCm39)	V307A	probably benign	Het
Lama3	G	A	18: 12,552,314 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,484,521 (GRCm39)	Y367*	probably null	Het
Ms4a14	T	A	19: 11,281,009 (GRCm39)	Q516H	unknown	Het
Nprl3	C	T	11: 32,184,812 (GRCm39)	R399Q	probably benign	Het
Or13c3	A	T	4: 52,856,192 (GRCm39)	M107K	possibly damaging	Het
Or5ae1	A	T	7: 84,565,670 (GRCm39)	I228F	probably damaging	Het
Park7	G	T	4: 150,989,721 (GRCm39)	Q80K	probably benign	Het
Pramel15	C	A	4: 144,103,600 (GRCm39)	L175F	possibly damaging	Het
Pramel52-ps	C	T	5: 94,529,415 (GRCm39)	P62S	probably benign	Het
Ptgs2	T	C	1: 149,979,738 (GRCm39)	V281A	possibly damaging	Het
Rprd1a	T	C	18: 24,639,720 (GRCm39)		probably null	Het
Speer4f2	A	G	5: 17,579,420 (GRCm39)	E73G	probably damaging	Het
Spta1	T	C	1: 174,006,251 (GRCm39)	W138R	probably damaging	Het
U2surp	T	C	9: 95,354,124 (GRCm39)	E838G	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp19	G	T	9: 108,376,926 (GRCm39)	L1165F	probably damaging	Het
Zfp27	G	A	7: 29,595,818 (GRCm39)	T49I	possibly damaging	Het

Other mutations in Defa38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Defa38	APN	8	21,585,275 (GRCm39)	splice site	probably benign
IGL02212:Defa38	APN	8	21,585,276 (GRCm39)	splice site	probably benign
R1495:Defa38	UTSW	8	21,585,217 (GRCm39)	missense	probably benign	0.33
R6045:Defa38	UTSW	8	21,585,248 (GRCm39)	missense	possibly damaging	0.53
R9756:Defa38	UTSW	8	21,585,943 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GCAATTGAGCTAAGCACAATGG -3'
(R):5'- AATGTCTCGTGTCCATGGTG -3'

Sequencing Primer
(F):5'- CACAATGGGATCGTGTGGACC -3'
(R):5'- GCTGACTGTGATGTCACCAGTAC -3'

Posted On

2018-06-22