Mutagenetix > Incidental Mutation

Incidental Mutation 'R5941:Plekha7'

460262

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

MMRRC Submission

044133-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R5941 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

115722720-115907611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115724040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1265 (D1265G)

Ref Sequence

ENSEMBL: ENSMUSP00000138575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181998] [ENSMUST00000182834] [ENSMUST00000214700] [ENSMUST00000217046]

AlphaFold

Q3UIL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084664
AA Change: D1029G

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: D1029G

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: ENSMUST00000181998
AA Change: D1265G

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: D1265G

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 benign
Transcript: ENSMUST00000182443

Predicted Effect

probably benign
Transcript: ENSMUST00000182834
AA Change: D1219G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: D1219G

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

probably benign
Transcript: ENSMUST00000214700

Predicted Effect

probably benign
Transcript: ENSMUST00000217046

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

97% (95/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,190,321 (GRCm39)	D70E	probably damaging	Het
Adamts14	C	T	10: 61,057,674 (GRCm39)	G561R	probably damaging	Het
Alpk3	A	T	7: 80,728,401 (GRCm39)	K510N	probably damaging	Het
Ap3b1	A	G	13: 94,576,781 (GRCm39)	N269D	probably benign	Het
Ap3b1	T	C	13: 94,619,773 (GRCm39)	S144P	probably damaging	Het
Apba2	C	A	7: 64,395,464 (GRCm39)	Q635K	probably benign	Het
Aspg	C	T	12: 112,079,519 (GRCm39)	T99I	probably benign	Het
Atp7b	A	G	8: 22,487,512 (GRCm39)	V1179A	probably damaging	Het
Bbs12	T	C	3: 37,374,197 (GRCm39)	V215A	probably damaging	Het
Bcl2l11	C	A	2: 127,969,703 (GRCm39)		probably benign	Het
Bglap3	T	G	3: 88,283,653 (GRCm39)		probably benign	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cdh26	C	T	2: 178,123,443 (GRCm39)	Q662*	probably null	Het
Cftr	T	A	6: 18,313,645 (GRCm39)	F1290I	probably damaging	Het
Clip3	G	A	7: 29,991,731 (GRCm39)	E36K	probably damaging	Het
Cog2	A	G	8: 125,272,825 (GRCm39)	I541V	probably benign	Het
Cpt1b	A	T	15: 89,309,417 (GRCm39)	W39R	probably damaging	Het
Csmd1	A	G	8: 15,982,471 (GRCm39)	V2732A	probably damaging	Het
Dlec1	A	G	9: 118,955,380 (GRCm39)	D688G	probably damaging	Het
Dnah12	A	G	14: 26,428,022 (GRCm39)	E216G	probably benign	Het
Dnah7b	C	A	1: 46,226,450 (GRCm39)	L1294I	probably damaging	Het
Duox1	T	A	2: 122,174,637 (GRCm39)	L1265Q	probably damaging	Het
Fam91a1	T	A	15: 58,303,166 (GRCm39)	D358E	probably benign	Het
Fat3	A	C	9: 15,910,797 (GRCm39)	I1735S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabrr1	T	A	4: 33,162,676 (GRCm39)	M414K	probably benign	Het
Gm21915	A	C	9: 40,581,995 (GRCm39)	E29D	possibly damaging	Het
Gm9955	G	A	18: 24,842,320 (GRCm39)		probably benign	Het
Gpat2	C	A	2: 127,270,195 (GRCm39)	D69E	possibly damaging	Het
Grin2b	T	G	6: 135,713,371 (GRCm39)	I837L	probably damaging	Het
Gucy2g	T	C	19: 55,203,563 (GRCm39)	D745G	probably damaging	Het
H2-Q1	A	G	17: 35,540,332 (GRCm39)	Y139C	probably damaging	Het
Ints2	G	C	11: 86,141,798 (GRCm39)	N216K	probably benign	Het
Jmy	G	A	13: 93,635,333 (GRCm39)	P161L	probably benign	Het
Kctd11	G	A	11: 69,770,799 (GRCm39)	R80W	possibly damaging	Het
Kif7	A	G	7: 79,360,880 (GRCm39)		probably benign	Het
Kifc1	C	T	17: 34,102,059 (GRCm39)		probably benign	Het
Lcor	G	A	19: 41,574,839 (GRCm39)	R1198Q	probably damaging	Het
Mir412	C	A	12: 109,709,733 (GRCm39)		noncoding transcript	Het
Mknk1	T	A	4: 115,733,834 (GRCm39)		probably benign	Het
Mmp16	A	G	4: 18,054,354 (GRCm39)		probably benign	Het
Mmp7	A	G	9: 7,697,646 (GRCm39)	H227R	probably damaging	Het
Myh4	A	C	11: 67,150,126 (GRCm39)	D1861A	probably damaging	Het
Nup205	T	C	6: 35,209,343 (GRCm39)	L1550P	probably damaging	Het
Or10g1	C	T	14: 52,647,525 (GRCm39)	G268D	probably benign	Het
Or2a56	G	T	6: 42,932,650 (GRCm39)	A73S	possibly damaging	Het
Or4c113	T	A	2: 88,884,963 (GRCm39)	H269L	probably benign	Het
Or4c58	T	A	2: 89,674,859 (GRCm39)	I153F	probably benign	Het
Or51af1	A	G	7: 103,141,927 (GRCm39)	S53P	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pafah1b2	A	T	9: 45,887,405 (GRCm39)	C35*	probably null	Het
Pappa	T	A	4: 65,232,830 (GRCm39)	F1323Y	possibly damaging	Het
Phtf2	A	T	5: 20,979,071 (GRCm39)	F519Y	probably damaging	Het
Pigk	T	C	3: 152,472,150 (GRCm39)	I354T	possibly damaging	Het
Prss12	A	G	3: 123,299,150 (GRCm39)	R641G	probably benign	Het
Prss28	A	G	17: 25,528,717 (GRCm39)	Y53C	probably damaging	Het
Rabgap1	G	T	2: 37,451,908 (GRCm39)	C936F	possibly damaging	Het
Rap1a	T	C	3: 105,639,385 (GRCm39)	I91M	possibly damaging	Het
Rap1gap2	A	T	11: 74,283,063 (GRCm39)	M679K	probably damaging	Het
Rapgef5	T	A	12: 117,692,473 (GRCm39)	L352I	probably damaging	Het
Rhbdl3	G	A	11: 80,222,715 (GRCm39)	V255M	probably benign	Het
Rhot1	T	C	11: 80,141,996 (GRCm39)		probably benign	Het
Rita1	A	C	5: 120,747,626 (GRCm39)	V224G	probably benign	Het
Ryr2	T	A	13: 11,702,788 (GRCm39)	Y2900F	probably damaging	Het
Scaf11	A	C	15: 96,318,189 (GRCm39)	H458Q	probably damaging	Het
Scamp4	T	A	10: 80,448,255 (GRCm39)	S159T	probably benign	Het
Setd5	T	A	6: 113,105,451 (GRCm39)	Y828N	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sipa1l2	A	G	8: 126,200,275 (GRCm39)	S684P	probably damaging	Het
Stard9	A	T	2: 120,544,039 (GRCm39)	I4446F	probably damaging	Het
Sult1c2	T	C	17: 54,138,926 (GRCm39)	D217G	probably benign	Het
Supt16	C	A	14: 52,419,653 (GRCm39)	K148N	probably benign	Het
Syne3	G	A	12: 104,913,251 (GRCm39)	S570L	probably benign	Het
Tcf3	G	T	10: 80,248,878 (GRCm39)	D534E	probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trbv3	T	C	6: 41,025,335 (GRCm39)	I3T	probably benign	Het
Trbv4	T	A	6: 41,036,563 (GRCm39)	Y29*	probably null	Het
Ttl	A	G	2: 128,917,904 (GRCm39)	N122S	probably benign	Het
Txndc11	T	C	16: 10,892,935 (GRCm39)	T932A	probably benign	Het
Ube2e2	G	A	14: 18,586,910 (GRCm38)	A150V	probably damaging	Het
Ube2ql1	T	C	13: 69,887,459 (GRCm39)	M1V	probably null	Het
Uqcrc1	A	G	9: 108,776,554 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,362,227 (GRCm39)	D2702G	probably damaging	Het
Vcan	T	A	13: 89,840,810 (GRCm39)	D618V	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,787 (GRCm39)		noncoding transcript	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zap70	G	A	1: 36,810,030 (GRCm39)	V47M	probably damaging	Het
Zfp770	A	G	2: 114,028,027 (GRCm39)	M14T	possibly damaging	Het
Zup1	C	T	10: 33,825,458 (GRCm39)	G8D	probably 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
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
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'- TGCTTCTGTCATCTGTCAAAAGG -3'
(R):5'- AAAAGGTCCCTTGACAGCG -3'

Sequencing Primer
(F):5'- GTCATCTGTCAAAAGGTATCTGGAC -3'
(R):5'- AGTCCCTTTCATGCGTGT -3'

Posted On

2017-02-28