Mutagenetix > Incidental Mutations

Incidental Mutation 'R7614:Psd'

588799

Institutional Source

Beutler Lab

Gene Symbol

Psd

Ensembl Gene

ENSMUSG00000037126

Gene Name

pleckstrin and Sec7 domain containing

Synonyms

Psdl, Efa6a, Efa6, 1110007H17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46312087-46327156 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46313438 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 903 (Q903L)

Ref Sequence

ENSEMBL: ENSMUSP00000039728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041391] [ENSMUST00000073116] [ENSMUST00000096029] [ENSMUST00000111881] [ENSMUST00000224556] [ENSMUST00000225323]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041391
AA Change: Q903L

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

SMART Domains

Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: Q903L

Domain	Start	End	E-Value	Type
low complexity region	48	63	N/A	INTRINSIC
low complexity region	79	99	N/A	INTRINSIC
low complexity region	329	368	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
low complexity region	445	466	N/A	INTRINSIC
Sec7	519	708	5.08e-75	SMART
low complexity region	714	724	N/A	INTRINSIC
low complexity region	736	744	N/A	INTRINSIC
PH	757	871	1.87e-13	SMART
Blast:Sec7	900	952	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000073116

SMART Domains

Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	40	220	1.3e-67	PFAM
IPT	227	326	3.48e-27	SMART
low complexity region	351	382	N/A	INTRINSIC
low complexity region	391	409	N/A	INTRINSIC
ANK	487	522	5.58e1	SMART
ANK	526	555	9.78e-4	SMART
ANK	559	591	3.74e0	SMART
ANK	599	628	3.36e-2	SMART
ANK	633	663	1.3e1	SMART
ANK	667	696	4.26e-4	SMART
low complexity region	707	721	N/A	INTRINSIC
ANK	729	758	2.35e3	SMART
DEATH	764	851	5.52e-16	SMART
low complexity region	879	894	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096029
AA Change: Q904L

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

SMART Domains

Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: Q904L

Domain	Start	End	E-Value	Type
low complexity region	48	63	N/A	INTRINSIC
low complexity region	79	99	N/A	INTRINSIC
low complexity region	329	368	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
low complexity region	445	466	N/A	INTRINSIC
Sec7	520	709	5.08e-75	SMART
low complexity region	715	725	N/A	INTRINSIC
low complexity region	737	745	N/A	INTRINSIC
PH	758	872	1.87e-13	SMART
Blast:Sec7	901	953	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111881

SMART Domains

Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225

Domain	Start	End	E-Value	Type
Pfam:RHD	40	220	1.3e-67	PFAM
IPT	227	326	3.48e-27	SMART
low complexity region	351	382	N/A	INTRINSIC
low complexity region	391	409	N/A	INTRINSIC
ANK	487	522	5.58e1	SMART
ANK	526	555	9.78e-4	SMART
ANK	559	591	3.74e0	SMART
ANK	599	628	3.36e-2	SMART
ANK	633	663	1.3e1	SMART
ANK	667	696	4.26e-4	SMART
low complexity region	707	721	N/A	INTRINSIC
ANK	729	758	2.35e3	SMART
DEATH	764	851	5.52e-16	SMART
low complexity region	879	894	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224556
AA Change: Q272L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225323
AA Change: Q904L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	T	A	3: 108,542,532	D42E	probably benign	Het
Abl2	A	G	1: 156,636,859	T535A	possibly damaging	Het
Adcy9	A	T	16: 4,418,224	L441Q	probably damaging	Het
Adgrv1	A	T	13: 81,520,661	V2592E	probably damaging	Het
Ahdc1	A	G	4: 133,063,514	S689G	probably benign	Het
Ankrd24	G	A	10: 81,638,689	G229E	unknown	Het
Ankrd34c	T	A	9: 89,728,861	I476F	probably damaging	Het
Arhgap8	A	G	15: 84,757,075	T181A	probably benign	Het
Arhgef19	A	G	4: 141,256,779	H770R	possibly damaging	Het
Arhgef4	T	G	1: 34,732,235	S1208A	possibly damaging	Het
Arid1a	A	T	4: 133,691,155	M654K	unknown	Het
Atp11b	T	A	3: 35,810,110		probably null	Het
Cadps	A	G	14: 12,454,260	I1086T	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cntn3	T	C	6: 102,165,376	H1010R	probably benign	Het
Cyp2c66	T	A	19: 39,171,028	Y308N	probably damaging	Het
Dok6	T	A	18: 89,473,943	H170L	probably damaging	Het
Eefsec	C	T	6: 88,281,594	D506N	possibly damaging	Het
Fam181a	C	T	12: 103,316,546	P237S	probably damaging	Het
Fam186b	T	C	15: 99,286,986	I19V	probably damaging	Het
Gm3285	A	T	10: 77,862,031	T5S	unknown	Het
Heg1	A	G	16: 33,727,363	E864G	probably benign	Het
Herc2	T	A	7: 56,153,275	L2124*	probably null	Het
Hexa	T	C	9: 59,561,947	S331P	probably damaging	Het
Hspb1	A	T	5: 135,888,369	D104V	probably damaging	Het
Ikzf1	A	T	11: 11,769,019	Q329L	probably damaging	Het
Kcnf1	C	A	12: 17,174,786	R478L	probably benign	Het
Kdm3a	T	C	6: 71,591,953	T1161A	possibly damaging	Het
Krtap31-2	T	C	11: 99,936,603	I87T	possibly damaging	Het
Lars2	T	C	9: 123,395,111	S116P		Het
Lrrk2	A	G	15: 91,772,858	D1785G	probably damaging	Het
Myo10	A	G	15: 25,701,623	H61R	probably benign	Het
Olfr12	A	G	1: 92,620,461	Y185C	probably damaging	Het
Olfr248	T	G	1: 174,391,654	F195C	probably damaging	Het
Pcdhb4	C	A	18: 37,309,549	H637Q	probably benign	Het
Pcsk9	T	A	4: 106,447,566	D435V	probably benign	Het
Prickle2	T	A	6: 92,425,650	Y119F	possibly damaging	Het
Ptpn13	T	A	5: 103,501,465	S245T	probably benign	Het
Resp18	T	C	1: 75,278,238	S24G	probably damaging	Het
Slc17a4	T	C	13: 23,906,597	T89A	probably benign	Het
Slc9a9	A	G	9: 94,855,739	Y233C	probably damaging	Het
Slit1	T	A	19: 41,634,200	I707F	probably damaging	Het
Sp4	T	C	12: 118,254,439	E691G	possibly damaging	Het
Sun2	G	T	15: 79,739,024		probably null	Het
Syne3	T	C	12: 104,946,642	T723A	not run	Het
Tcp1	T	A	17: 12,922,653	F340I	possibly damaging	Het
Tmem39b	A	T	4: 129,693,901	V39D	probably damaging	Het
Tmtc3	A	T	10: 100,450,352	Y536*	probably null	Het
Tnfrsf11a	A	T	1: 105,827,369	T389S	probably damaging	Het
Ttn	T	C	2: 76,768,529	T19347A	possibly damaging	Het
Vmn1r68	A	G	7: 10,527,626	S182P	probably benign	Het
Vmn2r95	A	G	17: 18,440,090	T255A	probably benign	Het
Wdr59	T	C	8: 111,492,762	Y221C		Het

Other mutations in Psd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Psd	APN	19	46314747	missense	possibly damaging	0.77
IGL01307:Psd	APN	19	46314658	missense	probably damaging	1.00
IGL02329:Psd	APN	19	46319659	missense	possibly damaging	0.66
IGL02423:Psd	APN	19	46314504	missense	possibly damaging	0.95
IGL02644:Psd	APN	19	46323395	missense	probably damaging	1.00
IGL02724:Psd	APN	19	46319545	missense	probably benign	0.04
IGL03117:Psd	APN	19	46323122	unclassified	probably benign
ANU05:Psd	UTSW	19	46314747	missense	possibly damaging	0.77
P0035:Psd	UTSW	19	46320961	missense	possibly damaging	0.56
R0054:Psd	UTSW	19	46323342	missense	probably damaging	1.00
R0054:Psd	UTSW	19	46323342	missense	probably damaging	1.00
R0403:Psd	UTSW	19	46320972	unclassified	probably benign
R0499:Psd	UTSW	19	46322161	missense	probably damaging	0.98
R0542:Psd	UTSW	19	46314210	missense	probably damaging	1.00
R0543:Psd	UTSW	19	46319517	missense	possibly damaging	0.62
R0894:Psd	UTSW	19	46313441	missense	probably damaging	1.00
R1449:Psd	UTSW	19	46324811	missense	probably damaging	0.99
R1586:Psd	UTSW	19	46314798	missense	probably damaging	0.98
R2096:Psd	UTSW	19	46324649	splice site	probably null
R2504:Psd	UTSW	19	46324913	missense	possibly damaging	0.90
R2857:Psd	UTSW	19	46324420	missense	probably benign	0.00
R2863:Psd	UTSW	19	46314762	missense	probably damaging	0.97
R3897:Psd	UTSW	19	46324585	missense	possibly damaging	0.93
R3967:Psd	UTSW	19	46324406	missense	probably benign
R3970:Psd	UTSW	19	46324406	missense	probably benign
R4435:Psd	UTSW	19	46314494	missense	probably damaging	1.00
R4612:Psd	UTSW	19	46313339	missense	probably benign	0.15
R4940:Psd	UTSW	19	46322417	missense	probably damaging	1.00
R5055:Psd	UTSW	19	46322468	missense	probably benign	0.00
R5485:Psd	UTSW	19	46316089	splice site	probably null
R5768:Psd	UTSW	19	46312739	missense	possibly damaging	0.84
R5775:Psd	UTSW	19	46314772	nonsense	probably null
R6057:Psd	UTSW	19	46323314	missense	possibly damaging	0.77
R6349:Psd	UTSW	19	46313387	splice site	probably null
R6496:Psd	UTSW	19	46320314	missense	probably damaging	1.00
R6614:Psd	UTSW	19	46313412	missense	probably benign	0.11
R6820:Psd	UTSW	19	46320844	missense	probably damaging	1.00
R6849:Psd	UTSW	19	46317746	missense	probably damaging	0.97
R6860:Psd	UTSW	19	46322419	missense	probably damaging	1.00
R7286:Psd	UTSW	19	46314801	missense	probably damaging	0.98
R7326:Psd	UTSW	19	46324454	missense	probably benign	0.01
R7351:Psd	UTSW	19	46322430	missense	probably benign	0.27
R7593:Psd	UTSW	19	46312913	missense	possibly damaging	0.47
R7943:Psd	UTSW	19	46324730	missense	possibly damaging	0.54
R8301:Psd	UTSW	19	46321102	intron	probably benign
R8498:Psd	UTSW	19	46324349	missense	probably damaging	1.00
Z1177:Psd	UTSW	19	46324661	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TCCTGTGTGGGAGATACCAAG -3'
(R):5'- CTCTCCCAGGTAGTTCCAAGTG -3'

Sequencing Primer
(F):5'- GGAGATACCAAGGCCCCAGTC -3'
(R):5'- CAGGTAGTTCCAAGTGGCTCAGTC -3'

Posted On

2019-10-24