Mutagenetix > Incidental Mutation

Incidental Mutation 'R3606:Plekha7'

269086

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R3606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115722720-115907611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115763477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 313 (D313G)

Ref Sequence

ENSEMBL: ENSMUSP00000138544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000216517]

AlphaFold

Q3UIL6

Predicted Effect

probably benign
Transcript: ENSMUST00000084664
AA Change: D139G

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: D139G

Domain	Start	End	E-Value	Type
Blast:PH	1	47	2e-23	BLAST
SCOP:d1kz7a2	18	69	1e-5	SMART
low complexity region	100	112	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	322	351	N/A	INTRINSIC
coiled coil region	461	500	N/A	INTRINSIC
coiled coil region	529	562	N/A	INTRINSIC
low complexity region	677	693	N/A	INTRINSIC
coiled coil region	828	856	N/A	INTRINSIC
low complexity region	947	959	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181981
AA Change: D270G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: D270G

Domain	Start	End	E-Value	Type
PH	59	178	1.42e-18	SMART
low complexity region	231	243	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	453	482	N/A	INTRINSIC
coiled coil region	592	631	N/A	INTRINSIC
coiled coil region	660	693	N/A	INTRINSIC
low complexity region	808	824	N/A	INTRINSIC
coiled coil region	959	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181998
AA Change: D375G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: D375G

Domain	Start	End	E-Value	Type
WW	9	41	4.51e-2	SMART
WW	54	86	7.79e-6	SMART
PH	164	283	1.42e-18	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	377	390	N/A	INTRINSIC
low complexity region	558	587	N/A	INTRINSIC
coiled coil region	697	736	N/A	INTRINSIC
coiled coil region	765	798	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
coiled coil region	1064	1092	N/A	INTRINSIC
low complexity region	1183	1195	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182443
AA Change: D293G

Predicted Effect

probably benign
Transcript: ENSMUST00000182487
AA Change: D375G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: D375G

Domain	Start	End	E-Value	Type
WW	9	41	4.51e-2	SMART
WW	54	86	7.79e-6	SMART
PH	164	283	1.42e-18	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	377	390	N/A	INTRINSIC
low complexity region	558	587	N/A	INTRINSIC
coiled coil region	697	736	N/A	INTRINSIC
coiled coil region	765	798	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
coiled coil region	1064	1092	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182511
AA Change: D313G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: D313G

Domain	Start	End	E-Value	Type
PH	102	221	1.42e-18	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	496	525	N/A	INTRINSIC
coiled coil region	635	674	N/A	INTRINSIC
coiled coil region	703	736	N/A	INTRINSIC
low complexity region	851	867	N/A	INTRINSIC
coiled coil region	1002	1030	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183308

Predicted Effect

probably benign
Transcript: ENSMUST00000182834
AA Change: D329G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: D329G

Domain	Start	End	E-Value	Type
PH	118	237	1.42e-18	SMART
low complexity region	290	302	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
low complexity region	512	541	N/A	INTRINSIC
coiled coil region	651	690	N/A	INTRINSIC
coiled coil region	719	752	N/A	INTRINSIC
low complexity region	867	883	N/A	INTRINSIC
coiled coil region	1018	1046	N/A	INTRINSIC
low complexity region	1137	1149	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206097

Predicted Effect

probably benign
Transcript: ENSMUST00000216517
AA Change: D375G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele show decreased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Cd101	A	T	3: 100,927,913 (GRCm39)	I56N	probably damaging	Het
Cs	A	T	10: 128,195,892 (GRCm39)	H367L	probably benign	Het
Ddb1	A	G	19: 10,605,857 (GRCm39)	E1095G	probably damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Ift70a1	T	C	2: 75,811,621 (GRCm39)	D154G	probably benign	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Myom2	T	C	8: 15,119,775 (GRCm39)	V177A	probably damaging	Het
Nelfcd	A	G	2: 174,268,337 (GRCm39)	Y525C	probably benign	Het
Or2t49	C	T	11: 58,392,957 (GRCm39)	V148M	possibly damaging	Het
Or5i1	C	A	2: 87,613,551 (GRCm39)	F222L	probably benign	Het
Pcdhgc5	A	G	18: 37,953,560 (GRCm39)	D278G	probably benign	Het
Peg3	T	C	7: 6,711,508 (GRCm39)	E1238G	probably damaging	Het
Ppp1r9a	A	G	6: 5,113,674 (GRCm39)	N726S	possibly damaging	Het
Psmd3	C	T	11: 98,581,780 (GRCm39)	R302W	probably damaging	Het
Ptbp2	A	G	3: 119,541,281 (GRCm39)	L223P	probably damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rundc3b	A	T	5: 8,562,386 (GRCm39)	D327E	probably damaging	Het
Tsr1	T	C	11: 74,796,059 (GRCm39)	S562P	probably benign	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het

Other mutations in Plekha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Plekha7	APN	7	115,734,419 (GRCm39)	missense	probably damaging	1.00
IGL01133:Plekha7	APN	7	115,744,476 (GRCm39)	splice site	probably null
IGL01146:Plekha7	APN	7	115,756,708 (GRCm39)	splice site	probably benign
IGL01307:Plekha7	APN	7	115,744,479 (GRCm39)	splice site	probably benign
IGL02063:Plekha7	APN	7	115,739,936 (GRCm39)	missense	possibly damaging	0.78
IGL02110:Plekha7	APN	7	115,753,863 (GRCm39)	splice site	probably null
IGL02420:Plekha7	APN	7	115,757,469 (GRCm39)	missense	probably damaging	1.00
IGL02660:Plekha7	APN	7	115,756,809 (GRCm39)	splice site	probably benign
IGL02851:Plekha7	APN	7	115,734,413 (GRCm39)	missense	probably damaging	1.00
Plexus	UTSW	7	115,747,559 (GRCm39)	missense	probably benign	0.07
R0614_Plekha7_947	UTSW	7	115,753,880 (GRCm39)	nonsense	probably null
R4750_Plekha7_499	UTSW	7	115,736,546 (GRCm39)	missense	probably damaging	1.00
R4810_Plekha7_997	UTSW	7	115,744,173 (GRCm39)	missense	probably damaging	1.00
Rhexis	UTSW	7	115,736,403 (GRCm39)	splice site	probably null
R0066:Plekha7	UTSW	7	115,756,743 (GRCm39)	missense	probably damaging	1.00
R0066:Plekha7	UTSW	7	115,756,743 (GRCm39)	missense	probably damaging	1.00
R0130:Plekha7	UTSW	7	115,769,939 (GRCm39)	missense	probably damaging	0.99
R0348:Plekha7	UTSW	7	115,757,255 (GRCm39)	missense	probably damaging	1.00
R0595:Plekha7	UTSW	7	115,744,203 (GRCm39)	missense	probably damaging	1.00
R0614:Plekha7	UTSW	7	115,753,880 (GRCm39)	nonsense	probably null
R0732:Plekha7	UTSW	7	115,744,472 (GRCm39)	missense	probably damaging	1.00
R1664:Plekha7	UTSW	7	115,734,269 (GRCm39)	splice site	probably null
R1695:Plekha7	UTSW	7	115,727,920 (GRCm39)	missense	probably damaging	1.00
R1794:Plekha7	UTSW	7	115,739,916 (GRCm39)	missense	probably damaging	1.00
R1895:Plekha7	UTSW	7	115,744,209 (GRCm39)	missense	probably damaging	1.00
R2153:Plekha7	UTSW	7	115,775,002 (GRCm39)	missense	probably damaging	1.00
R3106:Plekha7	UTSW	7	115,763,639 (GRCm39)	missense	probably benign	0.02
R3605:Plekha7	UTSW	7	115,763,477 (GRCm39)	missense	possibly damaging	0.68
R3789:Plekha7	UTSW	7	115,774,969 (GRCm39)	missense	probably damaging	1.00
R4584:Plekha7	UTSW	7	115,836,768 (GRCm39)	intron	probably benign
R4750:Plekha7	UTSW	7	115,736,546 (GRCm39)	missense	probably damaging	1.00
R4774:Plekha7	UTSW	7	115,744,178 (GRCm39)	missense	probably damaging	1.00
R4810:Plekha7	UTSW	7	115,744,173 (GRCm39)	missense	probably damaging	1.00
R4895:Plekha7	UTSW	7	115,788,626 (GRCm39)	splice site	probably null
R4925:Plekha7	UTSW	7	115,757,363 (GRCm39)	missense	probably damaging	1.00
R5556:Plekha7	UTSW	7	115,763,384 (GRCm39)	missense	probably benign	0.20
R5599:Plekha7	UTSW	7	115,776,117 (GRCm39)	splice site	probably null
R5848:Plekha7	UTSW	7	115,739,634 (GRCm39)	missense	probably damaging	1.00
R5928:Plekha7	UTSW	7	115,727,809 (GRCm39)	missense	probably benign
R5941:Plekha7	UTSW	7	115,724,040 (GRCm39)	missense	possibly damaging	0.56
R6351:Plekha7	UTSW	7	115,776,133 (GRCm39)	missense	probably damaging	1.00
R6520:Plekha7	UTSW	7	115,763,717 (GRCm39)	missense	probably benign	0.16
R6699:Plekha7	UTSW	7	115,734,410 (GRCm39)	missense	probably damaging	1.00
R6781:Plekha7	UTSW	7	115,757,090 (GRCm39)	critical splice donor site	probably null
R6843:Plekha7	UTSW	7	115,742,555 (GRCm39)	missense	probably benign	0.45
R6977:Plekha7	UTSW	7	115,735,202 (GRCm39)	missense	probably benign	0.01
R7048:Plekha7	UTSW	7	115,747,559 (GRCm39)	missense	probably benign	0.07
R7269:Plekha7	UTSW	7	115,780,447 (GRCm39)	missense	probably damaging	1.00
R7480:Plekha7	UTSW	7	115,736,403 (GRCm39)	splice site	probably null
R7520:Plekha7	UTSW	7	115,736,519 (GRCm39)	missense	possibly damaging	0.95
R7609:Plekha7	UTSW	7	115,763,681 (GRCm39)	missense	probably benign	0.25
R7680:Plekha7	UTSW	7	115,763,511 (GRCm39)	missense	probably benign	0.00
R7820:Plekha7	UTSW	7	115,836,715 (GRCm39)	missense	probably benign	0.12
R7989:Plekha7	UTSW	7	115,757,558 (GRCm39)	missense	probably benign	0.04
R8383:Plekha7	UTSW	7	115,744,154 (GRCm39)	missense	probably damaging	0.98
R8523:Plekha7	UTSW	7	115,907,164 (GRCm39)	missense	probably benign	0.01
R8863:Plekha7	UTSW	7	115,753,875 (GRCm39)	missense	probably damaging	1.00
R8920:Plekha7	UTSW	7	115,744,218 (GRCm39)	missense	probably benign	0.13
R8926:Plekha7	UTSW	7	115,756,223 (GRCm39)	splice site	probably benign
R9176:Plekha7	UTSW	7	115,739,926 (GRCm39)	missense	possibly damaging	0.94
R9576:Plekha7	UTSW	7	115,728,669 (GRCm39)	missense	possibly damaging	0.91
Z1177:Plekha7	UTSW	7	115,907,206 (GRCm39)	missense	probably damaging	1.00
Z1177:Plekha7	UTSW	7	115,739,898 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATTAGACTAACCTCCTGCCGTC -3'
(R):5'- TGACGCCTGCCAAGAATGTG -3'

Sequencing Primer
(F):5'- TGTCCAGTGCTCTGCCTGG -3'
(R):5'- CCAAGAATGTGGCCACGTG -3'

Posted On

2015-02-19