Mutagenetix > Incidental Mutation

Incidental Mutation 'R5484:Plekhs1'

430347

Institutional Source

Beutler Lab

Gene Symbol

Plekhs1

Ensembl Gene

ENSMUSG00000035818

Gene Name

pleckstrin homology domain containing, family S member 1

Synonyms

9930023K05Rik

MMRRC Submission

043045-MU

Accession Numbers

Essential gene?

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

Stock #

R5484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56450072-56475184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56468260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 276 (S276L)

Ref Sequence

ENSEMBL: ENSMUSP00000136674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039666] [ENSMUST00000178590] [ENSMUST00000225909]

AlphaFold

Q8BW88

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039666
AA Change: S276L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: S276L

Domain	Start	End	E-Value	Type
PH	21	137	4.68e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178590
AA Change: S276L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: S276L

Domain	Start	End	E-Value	Type
PH	21	136	1.77e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225391

Predicted Effect

probably benign
Transcript: ENSMUST00000225909

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,313,851 (GRCm39)	H609R	probably benign	Het
Abca6	A	T	11: 110,074,899 (GRCm39)	V1388E	probably damaging	Het
Alx1	T	A	10: 102,861,177 (GRCm39)	D117V	probably damaging	Het
Ascl4	T	C	10: 85,764,401 (GRCm39)	L16P	probably damaging	Het
Atp4a	G	A	7: 30,420,097 (GRCm39)		probably benign	Het
Btnl10	G	A	11: 58,814,651 (GRCm39)	V444M	probably damaging	Het
Camkv	A	T	9: 107,823,345 (GRCm39)	N124Y	probably damaging	Het
Catsperb	T	C	12: 101,542,175 (GRCm39)	L625P	probably benign	Het
Ccdc171	A	G	4: 83,612,199 (GRCm39)	I973V	probably benign	Het
Celsr1	T	C	15: 85,815,483 (GRCm39)	D1844G	probably benign	Het
Chd7	G	C	4: 8,828,258 (GRCm39)	K1066N	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Corin	T	C	5: 72,515,827 (GRCm39)	D409G	probably benign	Het
Cry1	T	C	10: 84,982,588 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,427,689 (GRCm39)		probably benign	Het
Cyrib	T	A	15: 63,815,056 (GRCm39)	T139S	probably damaging	Het
Dmxl1	T	A	18: 50,022,531 (GRCm39)	V1623E	probably damaging	Het
Dnah6	G	T	6: 73,069,099 (GRCm39)	D2477E	possibly damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dop1a	C	G	9: 86,427,341 (GRCm39)	R2164G	probably damaging	Het
Dsp	A	G	13: 38,368,014 (GRCm39)	T678A	possibly damaging	Het
Farsb	A	C	1: 78,452,833 (GRCm39)	I51S	probably damaging	Het
Gm10220	T	A	5: 26,322,930 (GRCm39)	I161L	possibly damaging	Het
Gm10782	G	T	13: 56,510,987 (GRCm39)		noncoding transcript	Het
Gm12830	A	T	4: 114,702,248 (GRCm39)	T137S	unknown	Het
Gopc	A	G	10: 52,234,942 (GRCm39)	L67P	probably damaging	Het
Hmcn1	T	C	1: 150,551,291 (GRCm39)	I2655V	probably benign	Het
Hmcn2	C	T	2: 31,283,066 (GRCm39)	Q1981*	probably null	Het
Ifi209	T	A	1: 173,468,640 (GRCm39)	S157T	probably benign	Het
Ift56	T	G	6: 38,366,057 (GRCm39)	C124W	probably benign	Het
Iqcf1	A	T	9: 106,379,107 (GRCm39)	I74F	probably damaging	Het
Irf3	A	T	7: 44,649,382 (GRCm39)	R78W	probably damaging	Het
Kank4	T	C	4: 98,663,022 (GRCm39)	D722G	probably benign	Het
Loxl1	A	G	9: 58,198,065 (GRCm39)	V597A	possibly damaging	Het
Marveld1	T	C	19: 42,136,272 (GRCm39)	L62P	probably damaging	Het
Mga	T	G	2: 119,747,107 (GRCm39)	D419E	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mroh2b	A	G	15: 4,938,463 (GRCm39)	K251E	possibly damaging	Het
Myh4	A	G	11: 67,142,644 (GRCm39)	E935G	probably damaging	Het
Nat8f2	C	A	6: 85,844,994 (GRCm39)	A123S	possibly damaging	Het
Niban1	A	G	1: 151,593,837 (GRCm39)	T841A	probably benign	Het
Or4d11	G	A	19: 12,013,192 (GRCm39)	L305F	probably benign	Het
Pcdha9	T	A	18: 37,131,156 (GRCm39)	V75E	probably damaging	Het
Pebp4	A	T	14: 70,200,991 (GRCm39)		probably null	Het
Pitx1	A	G	13: 55,974,166 (GRCm39)	S222P	probably benign	Het
Plekhg3	G	A	12: 76,625,174 (GRCm39)	V1339M	possibly damaging	Het
Plin4	T	C	17: 56,411,932 (GRCm39)	T700A	possibly damaging	Het
Plxnb2	T	C	15: 89,048,412 (GRCm39)		probably null	Het
Pms2	T	C	5: 143,864,943 (GRCm39)	I675T	probably damaging	Het
Polrmt	A	G	10: 79,577,888 (GRCm39)	L268P	probably damaging	Het
Rtp1	A	G	16: 23,248,025 (GRCm39)	T33A	probably benign	Het
Safb2	T	C	17: 56,882,346 (GRCm39)		probably benign	Het
Sdk1	C	A	5: 142,085,941 (GRCm39)	P1383Q	probably damaging	Het
Setdb1	A	T	3: 95,244,569 (GRCm39)	C758S	probably damaging	Het
Sh3gl2	T	C	4: 85,317,160 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,295,648 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,278,631 (GRCm39)	Y126H	probably damaging	Het
Strip2	C	A	6: 29,917,154 (GRCm39)		probably benign	Het
Tbx4	A	G	11: 85,805,230 (GRCm39)	T440A	probably damaging	Het
Tcf7l2	C	A	19: 55,907,940 (GRCm39)		probably null	Het
Tgfb1	A	C	7: 25,387,574 (GRCm39)	D94A	probably benign	Het
Tmem132b	T	C	5: 125,864,797 (GRCm39)	C968R	probably damaging	Het
Tmem176b	T	A	6: 48,811,467 (GRCm39)	M61L	probably benign	Het
Tmem258	A	G	19: 10,184,689 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,302,639 (GRCm39)	L1379S	probably benign	Het
Vmn2r44	T	C	7: 8,383,123 (GRCm39)	D157G	possibly damaging	Het
Wfdc8	T	C	2: 164,439,649 (GRCm39)	I244M	probably benign	Het
Zfp341	T	C	2: 154,466,921 (GRCm39)	S97P	probably benign	Het
Zfp655	T	C	5: 145,180,445 (GRCm39)	V101A	probably benign	Het
Zfp788	T	C	7: 41,299,277 (GRCm39)	S586P	probably damaging	Het
Zfp874b	C	T	13: 67,629,373 (GRCm39)	V52I	possibly damaging	Het

Other mutations in Plekhs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Plekhs1	APN	19	56,453,031 (GRCm39)	critical splice donor site	probably null
IGL01387:Plekhs1	APN	19	56,459,403 (GRCm39)	missense	probably benign	0.00
IGL02506:Plekhs1	APN	19	56,460,198 (GRCm39)	missense	probably damaging	1.00
FR4304:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
FR4340:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
FR4342:Plekhs1	UTSW	19	56,468,293 (GRCm39)	unclassified	probably benign
FR4342:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
FR4589:Plekhs1	UTSW	19	56,468,295 (GRCm39)	unclassified	probably benign
FR4737:Plekhs1	UTSW	19	56,468,295 (GRCm39)	unclassified	probably benign
IGL03052:Plekhs1	UTSW	19	56,459,189 (GRCm39)	missense	probably benign	0.43
R0023:Plekhs1	UTSW	19	56,466,948 (GRCm39)	missense	probably damaging	0.99
R0023:Plekhs1	UTSW	19	56,466,948 (GRCm39)	missense	probably damaging	0.99
R0100:Plekhs1	UTSW	19	56,466,934 (GRCm39)	missense	probably damaging	1.00
R0100:Plekhs1	UTSW	19	56,466,934 (GRCm39)	missense	probably damaging	1.00
R0129:Plekhs1	UTSW	19	56,465,722 (GRCm39)	critical splice donor site	probably null
R0498:Plekhs1	UTSW	19	56,469,536 (GRCm39)	splice site	probably null
R1264:Plekhs1	UTSW	19	56,474,195 (GRCm39)	missense	probably benign
R1528:Plekhs1	UTSW	19	56,468,427 (GRCm39)	missense	probably damaging	1.00
R1650:Plekhs1	UTSW	19	56,459,474 (GRCm39)	missense	probably damaging	1.00
R1820:Plekhs1	UTSW	19	56,466,954 (GRCm39)	missense	possibly damaging	0.48
R2884:Plekhs1	UTSW	19	56,459,258 (GRCm39)	missense	probably benign	0.01
R3237:Plekhs1	UTSW	19	56,453,032 (GRCm39)	splice site	probably null
R4395:Plekhs1	UTSW	19	56,468,326 (GRCm39)	missense	probably benign
R4825:Plekhs1	UTSW	19	56,461,700 (GRCm39)	splice site	probably null
R5511:Plekhs1	UTSW	19	56,474,224 (GRCm39)	missense	probably damaging	0.97
R7105:Plekhs1	UTSW	19	56,465,647 (GRCm39)	missense	probably damaging	0.99
R7267:Plekhs1	UTSW	19	56,459,209 (GRCm39)	missense	probably damaging	0.96
R8212:Plekhs1	UTSW	19	56,460,188 (GRCm39)	missense	probably damaging	1.00
R8458:Plekhs1	UTSW	19	56,465,590 (GRCm39)	missense	probably benign	0.36
R8905:Plekhs1	UTSW	19	56,471,028 (GRCm39)	missense	probably damaging	1.00
R8962:Plekhs1	UTSW	19	56,461,680 (GRCm39)	missense	possibly damaging	0.73
R9564:Plekhs1	UTSW	19	56,461,628 (GRCm39)	missense	probably damaging	1.00
RF025:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
RF043:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGTTTGCACAGACTTCGGG -3'
(R):5'- AATGTGTCTGCCTCGCTCTTAG -3'

Sequencing Primer
(F):5'- GCACAGACTTCGGGACTTTG -3'
(R):5'- GCTCTTAGGGCCCACAAAGTTTTAG -3'

Posted On

2016-10-05