Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Plekha7'

192127

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

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

Stock #

R1695 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

115722720-115907611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115727920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 980 (N980S)

Ref Sequence

ENSEMBL: ENSMUSP00000081714 (fasta)

Gene Model

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

AlphaFold

Q3UIL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000084664
AA Change: N980S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: N980S

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: ENSMUST00000181998
AA Change: N1216S

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: N1216S

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: N1134S

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182834
AA Change: N1170S

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: N1170S

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
AA Change: N48S

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217046
AA Change: N48S

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	A	5: 121,638,970 (GRCm39)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,408,553 (GRCm39)	N75I	probably benign	Het
Adgrg5	A	G	8: 95,664,373 (GRCm39)	M328V	probably damaging	Het
Adk	A	G	14: 21,431,668 (GRCm39)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,429,201 (GRCm39)	D917V	probably damaging	Het
Appl2	C	T	10: 83,457,446 (GRCm39)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,706,632 (GRCm39)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,287,391 (GRCm39)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,009,580 (GRCm39)	L261P	probably damaging	Het
Brca1	G	T	11: 101,415,281 (GRCm39)	T951K	probably damaging	Het
Ccdc73	A	T	2: 104,822,450 (GRCm39)	S800C	probably damaging	Het
Cdh15	C	G	8: 123,588,755 (GRCm39)	D276E	probably benign	Het
Cfap119	A	G	7: 127,186,745 (GRCm39)		probably null	Het
Cfap418	T	A	4: 10,874,644 (GRCm39)	D10E	probably damaging	Het
Cfh	T	C	1: 140,030,575 (GRCm39)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm39)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,728,410 (GRCm39)	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,883,728 (GRCm39)	Y155C	probably damaging	Het
Cltc	C	A	11: 86,591,886 (GRCm39)		probably null	Het
Ctsll3	T	A	13: 60,948,791 (GRCm39)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,267,321 (GRCm39)	M130V	probably benign	Het
Daglb	T	C	5: 143,480,361 (GRCm39)	M455T	probably benign	Het
Dbn1	A	G	13: 55,624,521 (GRCm39)	S343P	probably benign	Het
Dnah2	T	A	11: 69,405,517 (GRCm39)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,099,555 (GRCm39)	M1K	probably null	Het
Eif3m	T	C	2: 104,847,298 (GRCm39)	E12G	probably damaging	Het
Epha2	T	C	4: 141,033,828 (GRCm39)	V29A	possibly damaging	Het
Farp2	T	A	1: 93,488,047 (GRCm39)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,978,971 (GRCm39)	S161R	probably benign	Het
Fgd2	A	T	17: 29,587,219 (GRCm39)	D315V	possibly damaging	Het
Fhip2a	T	C	19: 57,367,603 (GRCm39)	W337R	probably damaging	Het
Fstl4	T	A	11: 53,056,705 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,685,311 (GRCm39)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,364,922 (GRCm39)	L115P	probably damaging	Het
Hk2	T	A	6: 82,721,932 (GRCm39)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,140,415 (GRCm39)	A302E	probably benign	Het
Htr7	T	C	19: 35,947,136 (GRCm39)	N293D	probably benign	Het
Ikbkb	T	A	8: 23,163,496 (GRCm39)	E271D	probably benign	Het
Il5ra	A	T	6: 106,715,335 (GRCm39)	Y166*	probably null	Het
Il9r	T	A	11: 32,143,227 (GRCm39)	H244L	probably benign	Het
Itih4	T	C	14: 30,613,456 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Limk2	A	G	11: 3,303,275 (GRCm39)		probably null	Het
Med15	A	G	16: 17,540,644 (GRCm39)	F34S	probably damaging	Het
Mprip	C	T	11: 59,643,357 (GRCm39)	T505I	probably damaging	Het
Mtor	T	A	4: 148,623,364 (GRCm39)	N2071K	probably benign	Het
Muc16	A	G	9: 18,408,729 (GRCm39)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,166,908 (GRCm39)		probably null	Het
Myo7a	A	C	7: 97,741,703 (GRCm39)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,851,593 (GRCm39)	L81R	probably benign	Het
Ntn4	T	A	10: 93,569,464 (GRCm39)		probably null	Het
Or2y13	T	C	11: 49,415,162 (GRCm39)	V204A	probably benign	Het
Or4p19	T	C	2: 88,242,444 (GRCm39)	D186G	probably damaging	Het
Or51l4	A	T	7: 103,404,131 (GRCm39)	Y220*	probably null	Het
Otogl	T	G	10: 107,649,878 (GRCm39)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,887,003 (GRCm39)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,335,921 (GRCm39)	R238H	probably damaging	Het
Pex5l	T	A	3: 33,008,531 (GRCm39)	N151I	probably benign	Het
Reg4	C	T	3: 98,143,677 (GRCm39)	T157I	probably benign	Het
Rev3l	A	T	10: 39,700,612 (GRCm39)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,700,611 (GRCm39)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,342,340 (GRCm39)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,335,220 (GRCm39)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,147,315 (GRCm39)	L387F	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,667,641 (GRCm39)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,086,124 (GRCm39)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,162,024 (GRCm39)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,446,485 (GRCm39)	E312*	probably null	Het
Synpo	A	G	18: 60,736,459 (GRCm39)	F496L	probably benign	Het
Syt15	C	T	14: 33,944,858 (GRCm39)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,032,832 (GRCm39)	E246G	probably benign	Het
Trim44	T	C	2: 102,187,830 (GRCm39)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,272,885 (GRCm39)	K29*	probably null	Het
Vim	T	A	2: 13,584,921 (GRCm39)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm39)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,996,560 (GRCm39)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,466,991 (GRCm39)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,667 (GRCm39)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,879,357 (GRCm39)	E566*	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
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
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'- GGCCTGCCAACATCTGCTAACTTC -3'
(R):5'- TTATCAGGAATCCCCAGCCGGAAC -3'

Sequencing Primer
(F):5'- ACATGTCACTGAGAGCAGC -3'
(R):5'- AGCCGGAACCCTTAGCTTG -3'

Posted On

2014-05-14