Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Plekha7'

263061

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116123485-116308376 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116164404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 321 (R321K)

Ref Sequence

ENSEMBL: ENSMUSP00000148936 (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: R85K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: R85K

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: R216K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: R216K

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: R321K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: R321K

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: R239K

Predicted Effect

probably benign
Transcript: ENSMUST00000182487
AA Change: R321K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: R321K

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

probably benign
Transcript: ENSMUST00000182511
AA Change: R259K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: R259K

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

probably benign
Transcript: ENSMUST00000182834
AA Change: R275K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: R275K

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: ENSMUST00000183308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206097

Predicted Effect

probably benign
Transcript: ENSMUST00000216517
AA Change: R321K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Plekha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Plekha7	APN	7	116135184	missense	probably damaging	1.00
IGL01133:Plekha7	APN	7	116145241	splice site	probably null
IGL01146:Plekha7	APN	7	116157473	splice site	probably benign
IGL01307:Plekha7	APN	7	116145244	splice site	probably benign
IGL02063:Plekha7	APN	7	116140701	missense	possibly damaging	0.78
IGL02110:Plekha7	APN	7	116154628	splice site	probably null
IGL02420:Plekha7	APN	7	116158234	missense	probably damaging	1.00
IGL02660:Plekha7	APN	7	116157574	splice site	probably benign
IGL02851:Plekha7	APN	7	116135178	missense	probably damaging	1.00
Plexus	UTSW	7	116148324	missense	probably benign	0.07
R0614_Plekha7_947	UTSW	7	116154645	nonsense	probably null
R4750_Plekha7_499	UTSW	7	116137311	missense	probably damaging	1.00
R4810_Plekha7_997	UTSW	7	116144938	missense	probably damaging	1.00
Rhexis	UTSW	7	116137168	splice site	probably null
R0066:Plekha7	UTSW	7	116157508	missense	probably damaging	1.00
R0066:Plekha7	UTSW	7	116157508	missense	probably damaging	1.00
R0130:Plekha7	UTSW	7	116170704	missense	probably damaging	0.99
R0348:Plekha7	UTSW	7	116158020	missense	probably damaging	1.00
R0595:Plekha7	UTSW	7	116144968	missense	probably damaging	1.00
R0614:Plekha7	UTSW	7	116154645	nonsense	probably null
R0732:Plekha7	UTSW	7	116145237	missense	probably damaging	1.00
R1664:Plekha7	UTSW	7	116135034	splice site	probably null
R1695:Plekha7	UTSW	7	116128685	missense	probably damaging	1.00
R1794:Plekha7	UTSW	7	116140681	missense	probably damaging	1.00
R1895:Plekha7	UTSW	7	116144974	missense	probably damaging	1.00
R2153:Plekha7	UTSW	7	116175767	missense	probably damaging	1.00
R3605:Plekha7	UTSW	7	116164242	missense	possibly damaging	0.68
R3606:Plekha7	UTSW	7	116164242	missense	possibly damaging	0.68
R3789:Plekha7	UTSW	7	116175734	missense	probably damaging	1.00
R4584:Plekha7	UTSW	7	116237533	intron	probably benign
R4750:Plekha7	UTSW	7	116137311	missense	probably damaging	1.00
R4774:Plekha7	UTSW	7	116144943	missense	probably damaging	1.00
R4810:Plekha7	UTSW	7	116144938	missense	probably damaging	1.00
R4895:Plekha7	UTSW	7	116189391	splice site	probably null
R4925:Plekha7	UTSW	7	116158128	missense	probably damaging	1.00
R5556:Plekha7	UTSW	7	116164149	missense	probably benign	0.20
R5599:Plekha7	UTSW	7	116176882	splice site	probably null
R5848:Plekha7	UTSW	7	116140399	missense	probably damaging	1.00
R5928:Plekha7	UTSW	7	116128574	missense	probably benign
R5941:Plekha7	UTSW	7	116124805	missense	possibly damaging	0.56
R6351:Plekha7	UTSW	7	116176898	missense	probably damaging	1.00
R6520:Plekha7	UTSW	7	116164482	missense	probably benign	0.16
R6699:Plekha7	UTSW	7	116135175	missense	probably damaging	1.00
R6781:Plekha7	UTSW	7	116157855	critical splice donor site	probably null
R6843:Plekha7	UTSW	7	116143320	missense	probably benign	0.45
R6977:Plekha7	UTSW	7	116135967	missense	probably benign	0.01
R7048:Plekha7	UTSW	7	116148324	missense	probably benign	0.07
R7269:Plekha7	UTSW	7	116181212	missense	probably damaging	1.00
R7480:Plekha7	UTSW	7	116137168	splice site	probably null
R7520:Plekha7	UTSW	7	116137284	missense	possibly damaging	0.95
R7609:Plekha7	UTSW	7	116164446	missense	probably benign	0.25
R7680:Plekha7	UTSW	7	116164276	missense	probably benign	0.00
R7820:Plekha7	UTSW	7	116237480	missense	probably benign	0.12
R7989:Plekha7	UTSW	7	116158323	missense	probably benign	0.04
R8383:Plekha7	UTSW	7	116144919	missense	probably damaging	0.98
R8523:Plekha7	UTSW	7	116307929	missense	probably benign	0.01
R8863:Plekha7	UTSW	7	116154640	missense	probably damaging	1.00
R8920:Plekha7	UTSW	7	116144983	missense	probably benign	0.13
R8926:Plekha7	UTSW	7	116156988	splice site	probably benign
R9176:Plekha7	UTSW	7	116140691	missense	possibly damaging	0.94
R9576:Plekha7	UTSW	7	116129434	missense	possibly damaging	0.91
Z1177:Plekha7	UTSW	7	116140663	missense	probably benign	0.01
Z1177:Plekha7	UTSW	7	116307971	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCCCAGGCCATAAGGTG -3'
(R):5'- CTTAAGCCAGGTTCCGACAG -3'

Sequencing Primer
(F):5'- ATAAGGTGGCACCCCGTTC -3'
(R):5'- CCAGGTTCCGACAGTAGGAG -3'

Posted On

2015-02-05