Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Pgs1'

275421

Institutional Source

Beutler Lab

Gene Symbol

Pgs1

Ensembl Gene

ENSMUSG00000017715

Gene Name

phosphatidylglycerophosphate synthase 1

Synonyms

2610019F11Rik, 4933424M23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117877118-117914837 bp(+) (GRCm39)

Type of Mutation

splice site (26 bp from exon)

DNA Base Change (assembly)

C to T at 117910584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084803] [ENSMUST00000100185] [ENSMUST00000106308] [ENSMUST00000132676] [ENSMUST00000132685]

AlphaFold

Q8BHF7

Predicted Effect

probably benign
Transcript: ENSMUST00000017859

SMART Domains

Protein: ENSMUSP00000017859
Gene: ENSMUSG00000017715

Domain	Start	End	E-Value	Type
low complexity region	11	56	N/A	INTRINSIC
SCOP:d1f0ia1	70	287	4e-25	SMART
PDB:3HSI\|C	81	464	7e-8	PDB
Blast:PLDc	211	237	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000084803

SMART Domains

Protein: ENSMUSP00000081864
Gene: ENSMUSG00000033987

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	183	766	8.5e-142	PFAM
low complexity region	1015	1028	N/A	INTRINSIC
Pfam:DHC_N2	1260	1673	5.8e-135	PFAM
Pfam:AAA_6	1793	2023	6e-161	PFAM
low complexity region	2092	2104	N/A	INTRINSIC
Pfam:AAA_5	2107	2243	7.8e-13	PFAM
Pfam:AAA_7	2400	2671	1.1e-171	PFAM
Pfam:AAA_8	2748	3015	4.9e-166	PFAM
Pfam:MT	3027	3370	3.4e-214	PFAM
Pfam:AAA_9	3388	3615	2.4e-144	PFAM
Pfam:Dynein_heavy	3742	4452	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100185

SMART Domains

Protein: ENSMUSP00000097760
Gene: ENSMUSG00000017715

Domain	Start	End	E-Value	Type
SCOP:d1f0ia1	18	158	7e-13	SMART
Blast:PLDc	82	108	1e-8	BLAST
low complexity region	202	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106308

SMART Domains

Protein: ENSMUSP00000101915
Gene: ENSMUSG00000033987

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	184	764	1.7e-152	PFAM
low complexity region	1015	1028	N/A	INTRINSIC
Pfam:DHC_N2	1262	1671	4.1e-132	PFAM
Pfam:AAA_6	1793	2023	7e-149	PFAM
low complexity region	2092	2104	N/A	INTRINSIC
Pfam:AAA_5	2107	2243	2.5e-11	PFAM
Pfam:AAA_7	2400	2671	4.4e-169	PFAM
Pfam:AAA_8	2748	3015	7.1e-163	PFAM
Pfam:MT	3027	3370	1.1e-210	PFAM
Pfam:AAA_9	3392	3614	1e-84	PFAM
Pfam:Dynein_heavy	3748	4479	3.5e-230	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132676

SMART Domains

Protein: ENSMUSP00000121973
Gene: ENSMUSG00000017715

Domain	Start	End	E-Value	Type
low complexity region	12	57	N/A	INTRINSIC
SCOP:d1f0ia1	71	288	3e-25	SMART
PDB:3HSI\|C	82	475	3e-9	PDB
Blast:PLDc	212	238	2e-8	BLAST
Blast:PLDc	459	490	1e-13	BLAST
low complexity region	508	521	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132685

SMART Domains

Protein: ENSMUSP00000120542
Gene: ENSMUSG00000033987

Domain	Start	End	E-Value	Type
Pfam:DHC_N2	279	688	3.1e-132	PFAM
Pfam:AAA_6	811	1041	5.3e-149	PFAM
low complexity region	1110	1122	N/A	INTRINSIC
Blast:AAA	1123	1354	1e-104	BLAST
Pfam:AAA_7	1452	1671	8.9e-134	PFAM
Pfam:AAA_8	1763	2030	5.4e-163	PFAM
Pfam:MT	2042	2168	6.8e-52	PFAM
Pfam:MT	2163	2412	8.2e-149	PFAM
Pfam:AAA_9	2434	2656	7.9e-85	PFAM
Pfam:Dynein_heavy	2790	3457	2.6e-209	PFAM
Pfam:Dynein_heavy	3460	3569	4.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155507

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	Het

Other mutations in Pgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Pgs1	APN	11	117,896,366 (GRCm39)	missense	probably benign	0.07
R1703:Pgs1	UTSW	11	117,905,554 (GRCm39)	splice site	probably benign
R1747:Pgs1	UTSW	11	117,892,457 (GRCm39)	missense	probably benign	0.15
R1938:Pgs1	UTSW	11	117,896,553 (GRCm39)	missense	probably damaging	1.00
R2023:Pgs1	UTSW	11	117,893,228 (GRCm39)	missense	probably benign	0.00
R2066:Pgs1	UTSW	11	117,905,396 (GRCm39)	splice site	probably benign
R3915:Pgs1	UTSW	11	117,910,472 (GRCm39)	missense	probably benign
R4201:Pgs1	UTSW	11	117,893,362 (GRCm39)	missense	probably damaging	1.00
R4660:Pgs1	UTSW	11	117,910,503 (GRCm39)	missense	probably damaging	0.97
R4668:Pgs1	UTSW	11	117,894,333 (GRCm39)	missense	probably damaging	0.99
R4718:Pgs1	UTSW	11	117,896,709 (GRCm39)	missense	probably damaging	1.00
R4972:Pgs1	UTSW	11	117,896,719 (GRCm39)	critical splice donor site	probably null
R4974:Pgs1	UTSW	11	117,896,345 (GRCm39)	missense	probably benign	0.00
R5414:Pgs1	UTSW	11	117,905,502 (GRCm39)	missense	probably damaging	0.98
R6053:Pgs1	UTSW	11	117,892,535 (GRCm39)	missense	probably damaging	1.00
R6382:Pgs1	UTSW	11	117,894,186 (GRCm39)	missense	probably damaging	1.00
R7030:Pgs1	UTSW	11	117,893,312 (GRCm39)	missense	probably damaging	0.99
R9777:Pgs1	UTSW	11	117,894,256 (GRCm39)	missense	probably benign	0.00
Z1177:Pgs1	UTSW	11	117,896,382 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGGTGTCTAGGAACCAC -3'
(R):5'- AGATAGGTGAAGCTGGCCTC -3'

Sequencing Primer
(F):5'- TGTCTAGGAACCACAGAGTGACC -3'
(R):5'- TGAAGCTGGCCTCACCACAG -3'

Posted On

2015-04-02