Mutagenetix > Incidental Mutation

Incidental Mutation 'R0732:Plekha7'

67652

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

MMRRC Submission

038913-MU

Accession Numbers

Essential gene?

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

Stock #

R0732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115722720-115907611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115744472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 585 (M585K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000183281] [ENSMUST00000216517]

AlphaFold

Q3UIL6

Predicted Effect

probably benign
Transcript: ENSMUST00000084664
AA Change: M431K

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: M431K

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

possibly damaging
Transcript: ENSMUST00000181981
AA Change: M562K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: M562K

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

possibly damaging
Transcript: ENSMUST00000181998
AA Change: M667K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: M667K

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

probably damaging
Transcript: ENSMUST00000182443
AA Change: M585K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182487
AA Change: M667K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: M667K

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: M605K

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: M605K

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

possibly damaging
Transcript: ENSMUST00000182834
AA Change: M621K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: M621K

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

possibly damaging
Transcript: ENSMUST00000183281
AA Change: M87K

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138126
Gene: ENSMUSG00000045659
AA Change: M87K

Domain	Start	End	E-Value	Type
coiled coil region	117	156	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216517
AA Change: M734K

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,523,411 (GRCm39)	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,373,057 (GRCm39)	S187P	probably benign	Het
Adam28	T	C	14: 68,874,796 (GRCm39)	I294V	probably benign	Het
Adgrv1	T	C	13: 81,651,123 (GRCm39)	I3057M	possibly damaging	Het
Aff4	T	C	11: 53,266,423 (GRCm39)	V304A	probably benign	Het
Akr1b10	T	C	6: 34,367,044 (GRCm39)	Y108H	probably benign	Het
Ankib1	T	C	5: 3,763,163 (GRCm39)	N522S	possibly damaging	Het
Ano1	T	A	7: 144,173,225 (GRCm39)		probably null	Het
Antxr2	G	T	5: 98,108,567 (GRCm39)		probably null	Het
Arc	G	A	15: 74,543,044 (GRCm39)	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,688,783 (GRCm39)	D5G	possibly damaging	Het
Atf2	A	T	2: 73,675,844 (GRCm39)	M169K	possibly damaging	Het
BC005624	T	A	2: 30,863,949 (GRCm39)	T215S	possibly damaging	Het
Bmp8b	G	A	4: 122,999,199 (GRCm39)	G19D	unknown	Het
Cacna1d	T	C	14: 29,764,877 (GRCm39)	N1987S	probably damaging	Het
Camta1	T	A	4: 151,670,941 (GRCm39)		probably null	Het
Catsperg2	C	T	7: 29,400,121 (GRCm39)	G316D	probably damaging	Het
Cbs	G	T	17: 31,844,003 (GRCm39)	N209K	probably benign	Het
Ccdc122	T	A	14: 77,329,199 (GRCm39)	M84K	probably damaging	Het
Cd5	C	T	19: 10,700,649 (GRCm39)	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,795,419 (GRCm39)	M1T	probably null	Het
Coch	T	A	12: 51,642,155 (GRCm39)	D42E	probably damaging	Het
Crip2	C	T	12: 113,104,178 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,346,234 (GRCm39)	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,536,529 (GRCm39)	I319T	probably damaging	Het
Ddhd2	T	C	8: 26,231,348 (GRCm39)	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,324,412 (GRCm39)		probably null	Het
Exoc6b	C	A	6: 84,832,504 (GRCm39)	V397L	probably damaging	Het
Fam83b	T	A	9: 76,400,210 (GRCm39)	K298*	probably null	Het
Fbxo8	T	A	8: 57,044,564 (GRCm39)	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,855,089 (GRCm39)	M536K	probably benign	Het
Flot1	C	T	17: 36,136,416 (GRCm39)	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,312,739 (GRCm39)	V374E	probably benign	Het
Gna15	T	A	10: 81,348,390 (GRCm39)	S114C	probably damaging	Het
Gstt4	T	A	10: 75,653,155 (GRCm39)	T136S	probably benign	Het
Hcn3	C	T	3: 89,056,093 (GRCm39)	V524M	probably damaging	Het
Kctd16	A	T	18: 40,391,616 (GRCm39)	D68V	probably damaging	Het
Kics2	T	C	10: 121,586,852 (GRCm39)	V253A	possibly damaging	Het
Krt90	G	T	15: 101,468,860 (GRCm39)	F227L	possibly damaging	Het
Lrrc37	T	C	11: 103,510,664 (GRCm39)	T435A	unknown	Het
Maip1	A	G	1: 57,450,994 (GRCm39)	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,356,233 (GRCm39)	D72N	probably damaging	Het
Marveld3	A	T	8: 110,675,115 (GRCm39)	Y234N	probably damaging	Het
Mas1	A	G	17: 13,060,634 (GRCm39)	I263T	probably benign	Het
Matk	T	A	10: 81,094,140 (GRCm39)		probably null	Het
Mrgpre	T	A	7: 143,335,303 (GRCm39)	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,340,948 (GRCm39)	I449N	probably damaging	Het
Nacc1	C	T	8: 85,402,830 (GRCm39)	R321Q	probably damaging	Het
Neb	T	C	2: 52,148,693 (GRCm39)	D2618G	probably damaging	Het
Neb	T	C	2: 52,181,280 (GRCm39)	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,506,135 (GRCm39)	W781G	probably damaging	Het
Or4g16	T	A	2: 111,137,325 (GRCm39)	Y258*	probably null	Het
Or4x6	A	G	2: 89,949,666 (GRCm39)	V92A	probably benign	Het
Or52d1	T	C	7: 103,755,501 (GRCm39)	L5P	probably damaging	Het
Or55b4	T	C	7: 102,133,650 (GRCm39)	I226V	probably benign	Het
Or5p72	C	A	7: 108,021,784 (GRCm39)	A2D	probably benign	Het
Or6k4	A	T	1: 173,964,981 (GRCm39)	I224F	possibly damaging	Het
Or8s8	T	C	15: 98,354,959 (GRCm39)	L256S	possibly damaging	Het
Or8u10	A	C	2: 85,915,928 (GRCm39)	S64R	probably benign	Het
Pcdh7	C	A	5: 57,878,657 (GRCm39)	D737E	probably damaging	Het
Pdss1	T	G	2: 22,791,324 (GRCm39)	M55R	probably benign	Het
Pex6	C	T	17: 47,035,626 (GRCm39)	R889W	probably damaging	Het
Pigl	T	A	11: 62,349,307 (GRCm39)	C8S	possibly damaging	Het
Ppp1r1a	C	T	15: 103,441,514 (GRCm39)	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,858,155 (GRCm39)		probably benign	Het
Rhov	A	T	2: 119,101,495 (GRCm39)	V37E	probably damaging	Het
Rnf213	A	T	11: 119,331,894 (GRCm39)	M2368L	probably damaging	Het
Skida1	T	C	2: 18,050,968 (GRCm39)		probably benign	Het
Slc25a28	T	C	19: 43,655,392 (GRCm39)	D161G	probably benign	Het
Smc6	T	C	12: 11,340,818 (GRCm39)	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,097,794 (GRCm39)		probably null	Het
Stk31	A	G	6: 49,394,429 (GRCm39)	T264A	probably benign	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,529,882 (GRCm39)	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,570,812 (GRCm39)	R220H	probably benign	Het
Tcf20	A	G	15: 82,736,504 (GRCm39)	L1649P	probably benign	Het
Tcirg1	A	T	19: 3,947,866 (GRCm39)	L523Q	possibly damaging	Het
Tinag	T	A	9: 76,908,936 (GRCm39)	K335M	possibly damaging	Het
Tkt	T	G	14: 30,293,097 (GRCm39)		probably null	Het
Tnpo1	C	T	13: 99,000,320 (GRCm39)	R349H	probably damaging	Het
Trim26	T	A	17: 37,163,510 (GRCm39)	S230R	possibly damaging	Het
Trim8	T	A	19: 46,503,178 (GRCm39)		probably null	Het
Trp53bp1	T	C	2: 121,078,745 (GRCm39)	R326G	probably null	Het
Ugt2a2	A	T	5: 87,608,498 (GRCm39)	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,530,690 (GRCm39)	I29V	probably benign	Het
Wnt5b	C	T	6: 119,423,543 (GRCm39)	W27*	probably null	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
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
R3606: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'- GCTCACAGAAGATGCTCAGCTTGAC -3'
(R):5'- GGGCAAACTGATGACCCCTGTAAC -3'

Sequencing Primer
(F):5'- TCAGCTTGACCTGTGAGTAAGAAC -3'
(R):5'- GATGACCCCTGTAACTTGAGC -3'

Posted On

2013-09-03