Mutagenetix > Incidental Mutation

Incidental Mutation 'R4387:Psd3'

326273

Institutional Source

Beutler Lab

Gene Symbol

Psd3

Ensembl Gene

ENSMUSG00000030465

Gene Name

pleckstrin and Sec7 domain containing 3

Synonyms

EFA6D, 4931420C21Rik

MMRRC Submission

041681-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4387 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68141734-68664679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68453413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 282 (Y282C)

Ref Sequence

ENSEMBL: ENSMUSP00000148783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000212505] [ENSMUST00000212960]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150169

Predicted Effect

probably damaging
Transcript: ENSMUST00000212505
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212960
AA Change: Y282C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Adprm	C	T	11: 66,929,019 (GRCm39)	R324K	probably benign	Het
Brd10	A	G	19: 29,782,715 (GRCm39)		probably benign	Het
Calcr	T	A	6: 3,707,581 (GRCm39)	N240Y	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cp	T	C	3: 20,031,366 (GRCm39)	V601A	probably damaging	Het
Cyp2a5	A	G	7: 26,540,479 (GRCm39)	D364G	probably damaging	Het
Eno4	T	A	19: 58,941,640 (GRCm39)	V187D	probably benign	Het
Fbxl7	C	A	15: 26,543,345 (GRCm39)	S434I	probably damaging	Het
Fbxw24	A	T	9: 109,439,053 (GRCm39)	L174Q	probably damaging	Het
Fryl	T	A	5: 73,243,903 (GRCm39)	R91S	possibly damaging	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Gtpbp2	A	G	17: 46,477,284 (GRCm39)	D383G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Lipi	T	A	16: 75,370,843 (GRCm39)	I125F	probably damaging	Het
Meig1	T	C	2: 3,410,278 (GRCm39)	E74G	probably damaging	Het
Mgat4d	A	T	8: 84,098,335 (GRCm39)	Q366L	probably damaging	Het
Mrpl1	A	G	5: 96,386,778 (GRCm39)	N256D	possibly damaging	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Nphp3	A	G	9: 103,907,219 (GRCm39)	T740A	possibly damaging	Het
Or5an1c	A	G	19: 12,218,503 (GRCm39)	V174A	probably damaging	Het
Or8k33	T	C	2: 86,384,298 (GRCm39)	T57A	probably damaging	Het
Or8k40	T	A	2: 86,584,464 (GRCm39)	D206V	probably benign	Het
Pde5a	T	C	3: 122,523,001 (GRCm39)	I36T	probably benign	Het
Pign	A	T	1: 105,449,785 (GRCm39)	L914M	possibly damaging	Het
Ppm1b	A	G	17: 85,322,847 (GRCm39)	D382G	probably benign	Het
Ptprt	A	T	2: 161,769,570 (GRCm39)	Y432N	probably damaging	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Shoc1	A	T	4: 59,060,915 (GRCm39)	C953S	possibly damaging	Het
Slit3	T	C	11: 35,574,875 (GRCm39)	V1063A	probably benign	Het
Spdye4a	A	G	5: 143,211,378 (GRCm39)	V62A	probably benign	Het
Ttc6	G	A	12: 57,689,836 (GRCm39)	G509S	probably benign	Het
Ush2a	C	T	1: 188,175,628 (GRCm39)	T1242M	probably benign	Het
Wwc2	T	C	8: 48,284,681 (GRCm39)	S1155G	unknown	Het
Zfp551	A	T	7: 12,152,568 (GRCm39)	I55N	probably damaging	Het

Other mutations in Psd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Psd3	APN	8	68,361,331 (GRCm39)	splice site	probably benign
IGL01095:Psd3	APN	8	68,361,165 (GRCm39)	missense	probably damaging	1.00
IGL01139:Psd3	APN	8	68,361,187 (GRCm39)	missense	probably damaging	1.00
IGL01330:Psd3	APN	8	68,149,830 (GRCm39)	missense	probably damaging	1.00
IGL01350:Psd3	APN	8	68,173,544 (GRCm39)	missense	probably damaging	1.00
IGL01487:Psd3	APN	8	68,149,766 (GRCm39)	missense	probably benign	0.01
IGL01780:Psd3	APN	8	68,416,521 (GRCm39)	missense	probably benign
IGL02020:Psd3	APN	8	68,426,822 (GRCm39)	intron	probably benign
IGL02232:Psd3	APN	8	68,356,797 (GRCm39)	missense	probably damaging	1.00
IGL02350:Psd3	APN	8	68,416,521 (GRCm39)	missense	probably benign
IGL02357:Psd3	APN	8	68,416,521 (GRCm39)	missense	probably benign
PIT4495001:Psd3	UTSW	8	68,416,565 (GRCm39)	missense	probably benign	0.00
R0052:Psd3	UTSW	8	68,335,631 (GRCm39)	critical splice donor site	probably null
R0052:Psd3	UTSW	8	68,335,631 (GRCm39)	critical splice donor site	probably null
R0242:Psd3	UTSW	8	68,210,738 (GRCm39)	missense	probably damaging	0.99
R0242:Psd3	UTSW	8	68,210,738 (GRCm39)	missense	probably damaging	0.99
R0581:Psd3	UTSW	8	68,173,598 (GRCm39)	missense	probably damaging	1.00
R0655:Psd3	UTSW	8	68,416,341 (GRCm39)	missense	probably benign	0.19
R1740:Psd3	UTSW	8	68,573,491 (GRCm39)	missense	probably damaging	1.00
R1789:Psd3	UTSW	8	68,413,217 (GRCm39)	missense	probably benign	0.26
R1847:Psd3	UTSW	8	68,172,656 (GRCm39)	missense	possibly damaging	0.93
R1951:Psd3	UTSW	8	68,416,139 (GRCm39)	missense	probably benign	0.00
R1954:Psd3	UTSW	8	68,149,727 (GRCm39)	missense	probably damaging	1.00
R2143:Psd3	UTSW	8	68,417,003 (GRCm39)	missense	probably damaging	1.00
R4801:Psd3	UTSW	8	68,573,800 (GRCm39)	missense	probably benign
R4802:Psd3	UTSW	8	68,573,800 (GRCm39)	missense	probably benign
R4913:Psd3	UTSW	8	68,573,821 (GRCm39)	missense	probably damaging	0.99
R5045:Psd3	UTSW	8	68,166,477 (GRCm39)	missense	probably damaging	0.99
R5173:Psd3	UTSW	8	68,149,641 (GRCm39)	missense	probably damaging	1.00
R5264:Psd3	UTSW	8	68,166,377 (GRCm39)	missense	probably benign	0.23
R5350:Psd3	UTSW	8	68,361,513 (GRCm39)	missense	probably benign	0.00
R5816:Psd3	UTSW	8	68,413,162 (GRCm39)	missense	possibly damaging	0.90
R5994:Psd3	UTSW	8	68,172,620 (GRCm39)	missense	probably damaging	1.00
R6157:Psd3	UTSW	8	68,574,179 (GRCm39)	start codon destroyed	probably benign	0.14
R6241:Psd3	UTSW	8	68,270,791 (GRCm39)	intron	probably benign
R6586:Psd3	UTSW	8	68,416,197 (GRCm39)	missense	probably damaging	0.96
R6735:Psd3	UTSW	8	68,573,398 (GRCm39)	critical splice donor site	probably null
R6908:Psd3	UTSW	8	68,416,829 (GRCm39)	missense	probably benign	0.00
R6984:Psd3	UTSW	8	68,270,697 (GRCm39)	missense	possibly damaging	0.85
R7082:Psd3	UTSW	8	68,356,800 (GRCm39)	missense	probably benign	0.03
R7116:Psd3	UTSW	8	68,166,390 (GRCm39)	missense	probably benign	0.12
R7297:Psd3	UTSW	8	68,573,686 (GRCm39)	missense	probably damaging	0.98
R7334:Psd3	UTSW	8	68,361,357 (GRCm39)	missense	possibly damaging	0.94
R7348:Psd3	UTSW	8	68,243,583 (GRCm39)	missense	possibly damaging	0.65
R7357:Psd3	UTSW	8	68,574,149 (GRCm39)	missense	probably benign	0.01
R7369:Psd3	UTSW	8	68,356,818 (GRCm39)	missense	possibly damaging	0.95
R7385:Psd3	UTSW	8	68,453,408 (GRCm39)	missense	probably damaging	1.00
R7733:Psd3	UTSW	8	68,573,568 (GRCm39)	missense	possibly damaging	0.75
R7873:Psd3	UTSW	8	68,335,634 (GRCm39)	missense	possibly damaging	0.95
R8110:Psd3	UTSW	8	68,573,708 (GRCm39)	missense	probably damaging	1.00
R8765:Psd3	UTSW	8	68,416,093 (GRCm39)	missense	possibly damaging	0.69
R8768:Psd3	UTSW	8	68,417,003 (GRCm39)	missense	probably damaging	1.00
R8817:Psd3	UTSW	8	68,413,135 (GRCm39)	missense	possibly damaging	0.95
R8837:Psd3	UTSW	8	68,172,596 (GRCm39)	missense	probably damaging	0.99
R8878:Psd3	UTSW	8	68,210,750 (GRCm39)	missense	probably benign	0.28
R8903:Psd3	UTSW	8	68,165,945 (GRCm39)	missense	unknown
R8955:Psd3	UTSW	8	68,416,461 (GRCm39)	missense	probably benign	0.08
R9216:Psd3	UTSW	8	68,573,539 (GRCm39)	missense	probably benign	0.00
R9241:Psd3	UTSW	8	68,415,967 (GRCm39)	missense	probably benign	0.00
R9351:Psd3	UTSW	8	68,413,301 (GRCm39)	missense	probably benign	0.18
R9449:Psd3	UTSW	8	68,165,833 (GRCm39)	missense	unknown
R9451:Psd3	UTSW	8	68,363,487 (GRCm39)	missense	unknown
R9709:Psd3	UTSW	8	68,194,414 (GRCm39)	missense	probably null	0.99
R9797:Psd3	UTSW	8	68,210,778 (GRCm39)	missense	probably damaging	0.99
Z1088:Psd3	UTSW	8	68,358,912 (GRCm39)	splice site	silent

Predicted Primers

PCR Primer
(F):5'- AGAGCAAGCTGTAGGAACTATATCC -3'
(R):5'- TGTATCAAGCATATTTACCGCGG -3'

Sequencing Primer
(F):5'- CCAACTCTAGTTTTGGGAAGACAGC -3'
(R):5'- CCGCGGTGGTGTAATCATTCC -3'

Posted On

2015-07-06