Mutagenetix > Incidental Mutation

Incidental Mutation 'R7329:Sez6l'

569103

Institutional Source

Beutler Lab

Gene Symbol

Sez6l

Ensembl Gene

ENSMUSG00000058153

Gene Name

seizure related 6 homolog like

Synonyms

Acig1

MMRRC Submission

045422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112567017-112725051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112588773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 647 (Y647H)

Ref Sequence

ENSEMBL: ENSMUSP00000078454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075387] [ENSMUST00000079491] [ENSMUST00000197425] [ENSMUST00000212480] [ENSMUST00000212758]

AlphaFold

Q6P1D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075387
AA Change: Y647H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: Y647H

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
CCP	813	870	8.04e-15	SMART
low complexity region	880	891	N/A	INTRINSIC
transmembrane domain	895	917	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079491
AA Change: Y647H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: Y647H

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
CCP	813	870	8.04e-15	SMART
low complexity region	878	892	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197425
AA Change: Y647H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: Y647H

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
low complexity region	815	826	N/A	INTRINSIC
transmembrane domain	830	852	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000212480
AA Change: Y647H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212758
AA Change: Y647H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.2516

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actb	T	C	5: 142,890,146 (GRCm39)	N252S	probably benign	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ahnak	A	G	19: 8,979,156 (GRCm39)	T147A	probably damaging	Het
Ankfy1	T	C	11: 72,603,034 (GRCm39)	V21A	probably damaging	Het
Arrdc4	T	A	7: 68,390,775 (GRCm39)	N322Y	probably damaging	Het
Bfsp2	C	A	9: 103,327,121 (GRCm39)	E205D	probably benign	Het
C2cd4b	T	A	9: 67,667,419 (GRCm39)	S138R	possibly damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Ckap2l	T	A	2: 129,127,284 (GRCm39)	Q298L	possibly damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cntnap2	G	A	6: 47,248,205 (GRCm39)	V1204M	possibly damaging	Het
Col4a1	C	T	8: 11,276,494 (GRCm39)		probably null	Het
Ctrc	T	C	4: 141,571,022 (GRCm39)	T73A	probably benign	Het
Cubn	A	G	2: 13,473,582 (GRCm39)	F454L	probably damaging	Het
Cuedc1	A	T	11: 88,060,692 (GRCm39)	S12C	unknown	Het
Cyb561a3	G	T	19: 10,565,268 (GRCm39)	G211C	probably damaging	Het
D5Ertd579e	A	T	5: 36,773,739 (GRCm39)	S219T	probably benign	Het
Dennd4c	T	A	4: 86,759,318 (GRCm39)	Y1783N	probably damaging	Het
Dennd4c	C	T	4: 86,698,111 (GRCm39)	P200S	possibly damaging	Het
Dnah6	G	A	6: 73,121,705 (GRCm39)	Q1426*	probably null	Het
Dync2h1	T	G	9: 7,011,247 (GRCm39)	T3649P	probably benign	Het
E2f8	T	C	7: 48,521,858 (GRCm39)	S415G	probably damaging	Het
Fbxo22	A	G	9: 55,122,261 (GRCm39)	I147V	probably benign	Het
Gclc	A	G	9: 77,683,473 (GRCm39)	Y110C	probably damaging	Het
Gstm5	A	G	3: 107,803,647 (GRCm39)	T27A	possibly damaging	Het
Heatr4	A	G	12: 84,024,856 (GRCm39)	S322P	probably benign	Het
Htt	T	A	5: 34,987,099 (GRCm39)	I1106N	probably benign	Het
Hunk	T	C	16: 90,183,570 (GRCm39)	V76A	probably benign	Het
Igkv12-98	C	T	6: 68,548,087 (GRCm39)	T72I	possibly damaging	Het
Igkv9-123	A	T	6: 67,931,629 (GRCm39)	W16R	possibly damaging	Het
Ipo7	T	C	7: 109,648,224 (GRCm39)	L674S	possibly damaging	Het
Kcnh6	T	C	11: 105,908,203 (GRCm39)	F273S	probably benign	Het
Lamb3	C	A	1: 193,002,848 (GRCm39)	Q98K	possibly damaging	Het
Lingo4	A	T	3: 94,310,162 (GRCm39)	T367S	probably benign	Het
Lypd6b	A	T	2: 49,832,512 (GRCm39)	I26F	probably benign	Het
Maneal	T	C	4: 124,750,512 (GRCm39)	T415A	probably benign	Het
Mapk1ip1l	A	G	14: 47,547,920 (GRCm39)	T23A	unknown	Het
Mrps17	T	A	5: 129,793,705 (GRCm39)		probably benign	Het
Mup13	T	G	4: 61,183,688 (GRCm39)	D45A	probably damaging	Het
Mycbpap	T	A	11: 94,400,073 (GRCm39)	D408V	probably damaging	Het
Myh10	A	G	11: 68,701,017 (GRCm39)	H1742R	probably benign	Het
Mylk4	A	G	13: 32,900,766 (GRCm39)	Y255H	probably damaging	Het
Nbeal1	A	G	1: 60,256,355 (GRCm39)	Q200R	probably benign	Het
Nkain2	TTTACTCGTT	TTT	10: 32,765,892 (GRCm39)		probably null	Het
Olfm4	T	C	14: 80,249,369 (GRCm39)	V162A	possibly damaging	Het
Or1j15	A	G	2: 36,458,708 (GRCm39)	T33A	probably benign	Het
Or51a8	T	C	7: 102,550,039 (GRCm39)	L155P	probably damaging	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8c11	C	A	9: 38,289,456 (GRCm39)	T87K	probably benign	Het
Ovol3	T	A	7: 29,934,677 (GRCm39)	R43S	probably benign	Het
Pcbp1	A	G	6: 86,502,098 (GRCm39)	V267A	probably benign	Het
Phf20	T	A	2: 156,146,552 (GRCm39)	V903E	probably damaging	Het
Pi4k2b	T	G	5: 52,914,211 (GRCm39)	S316A	probably benign	Het
Pira1	G	A	7: 3,742,875 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,617,743 (GRCm39)	H947Q	probably damaging	Het
Ppip5k2	A	C	1: 97,678,478 (GRCm39)		probably null	Het
Prkca	T	A	11: 107,905,103 (GRCm39)	T212S	possibly damaging	Het
Psg16	A	T	7: 16,824,611 (GRCm39)	I41F	possibly damaging	Het
Rae1	T	A	2: 172,851,238 (GRCm39)	F204I	probably benign	Het
Rasef	T	A	4: 73,662,374 (GRCm39)	N192I	probably damaging	Het
Rfc1	T	A	5: 65,420,478 (GRCm39)	R1122S	unknown	Het
Rfx2	A	T	17: 57,110,681 (GRCm39)	S102T	probably benign	Het
Siglecf	A	G	7: 43,001,395 (GRCm39)	Y121C	probably damaging	Het
Slc27a5	T	C	7: 12,725,089 (GRCm39)	T453A	possibly damaging	Het
Slc44a2	G	A	9: 21,254,048 (GRCm39)	R171Q	probably damaging	Het
Slc4a9	A	C	18: 36,673,874 (GRCm39)	E889A	possibly damaging	Het
Snx31	C	A	15: 36,555,621 (GRCm39)	R13L	probably benign	Het
Spag6l	A	T	16: 16,584,883 (GRCm39)	Y422N	probably benign	Het
Spmip5	T	C	19: 58,777,654 (GRCm39)	E52G	probably damaging	Het
Sulf2	T	C	2: 165,959,008 (GRCm39)	T67A	probably damaging	Het
Syne2	G	A	12: 76,013,758 (GRCm39)	R2983Q	probably benign	Het
Tmtc3	A	G	10: 100,283,281 (GRCm39)	I758T	probably benign	Het
Top2a	T	A	11: 98,895,072 (GRCm39)	I843L	possibly damaging	Het
Tph1	T	C	7: 46,306,285 (GRCm39)		probably null	Het
Trdmt1	A	G	2: 13,520,933 (GRCm39)	L323P	probably damaging	Het
Ush2a	A	T	1: 188,285,395 (GRCm39)	E1977V	probably damaging	Het
Utp4	A	G	8: 107,640,095 (GRCm39)	E468G	probably benign	Het
Uts2r	A	G	11: 121,051,558 (GRCm39)	T141A	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,952 (GRCm39)	Y47C	probably damaging	Het

Other mutations in Sez6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Sez6l	APN	5	112,572,511 (GRCm39)	missense	probably damaging	1.00
IGL00494:Sez6l	APN	5	112,610,869 (GRCm39)	missense	probably damaging	1.00
IGL00693:Sez6l	APN	5	112,569,879 (GRCm39)	missense	probably damaging	1.00
IGL01146:Sez6l	APN	5	112,576,275 (GRCm39)	missense	probably damaging	1.00
IGL01382:Sez6l	APN	5	112,573,487 (GRCm39)	missense	probably benign	0.00
IGL01393:Sez6l	APN	5	112,586,261 (GRCm39)	splice site	probably benign
IGL01961:Sez6l	APN	5	112,619,597 (GRCm39)	missense	probably damaging	1.00
IGL02101:Sez6l	APN	5	112,620,612 (GRCm39)	missense	probably damaging	1.00
IGL02104:Sez6l	APN	5	112,574,630 (GRCm39)	intron	probably benign
IGL02316:Sez6l	APN	5	112,610,828 (GRCm39)	missense	probably damaging	1.00
IGL02965:Sez6l	APN	5	112,623,440 (GRCm39)	missense	probably damaging	0.99
IGL03102:Sez6l	APN	5	112,623,269 (GRCm39)	missense	probably benign	0.02
IGL03112:Sez6l	APN	5	112,621,333 (GRCm39)	missense	probably damaging	1.00
IGL03180:Sez6l	APN	5	112,584,151 (GRCm39)	missense	probably damaging	1.00
ranger	UTSW	5	112,724,678 (GRCm39)	splice site	probably null
R0245:Sez6l	UTSW	5	112,623,432 (GRCm39)	missense	probably benign
R0662:Sez6l	UTSW	5	112,621,288 (GRCm39)	missense	probably damaging	1.00
R1227:Sez6l	UTSW	5	112,621,330 (GRCm39)	missense	probably damaging	1.00
R1605:Sez6l	UTSW	5	112,622,915 (GRCm39)	missense	probably damaging	1.00
R1873:Sez6l	UTSW	5	112,621,276 (GRCm39)	splice site	probably benign
R1878:Sez6l	UTSW	5	112,623,089 (GRCm39)	missense	probably damaging	0.98
R1892:Sez6l	UTSW	5	112,620,665 (GRCm39)	missense	probably damaging	1.00
R1961:Sez6l	UTSW	5	112,572,481 (GRCm39)	splice site	probably benign
R2038:Sez6l	UTSW	5	112,620,618 (GRCm39)	missense	possibly damaging	0.81
R2212:Sez6l	UTSW	5	112,623,227 (GRCm39)	missense	possibly damaging	0.76
R2315:Sez6l	UTSW	5	112,612,463 (GRCm39)	missense	probably benign	0.02
R2343:Sez6l	UTSW	5	112,612,597 (GRCm39)	missense	probably damaging	1.00
R3412:Sez6l	UTSW	5	112,623,227 (GRCm39)	missense	possibly damaging	0.76
R3413:Sez6l	UTSW	5	112,623,227 (GRCm39)	missense	possibly damaging	0.76
R3423:Sez6l	UTSW	5	112,574,615 (GRCm39)	missense	probably damaging	0.99
R3425:Sez6l	UTSW	5	112,574,615 (GRCm39)	missense	probably damaging	0.99
R4081:Sez6l	UTSW	5	112,609,032 (GRCm39)	missense	probably benign	0.01
R4574:Sez6l	UTSW	5	112,576,344 (GRCm39)	missense	probably damaging	1.00
R5792:Sez6l	UTSW	5	112,569,890 (GRCm39)	nonsense	probably null
R5864:Sez6l	UTSW	5	112,586,266 (GRCm39)	critical splice donor site	probably null
R6236:Sez6l	UTSW	5	112,623,110 (GRCm39)	missense	possibly damaging	0.86
R6274:Sez6l	UTSW	5	112,623,231 (GRCm39)	nonsense	probably null
R6466:Sez6l	UTSW	5	112,609,007 (GRCm39)	splice site	probably null
R6574:Sez6l	UTSW	5	112,724,692 (GRCm39)	missense	possibly damaging	0.89
R7008:Sez6l	UTSW	5	112,612,561 (GRCm39)	missense	probably damaging	1.00
R7241:Sez6l	UTSW	5	112,621,346 (GRCm39)	missense	probably benign
R7335:Sez6l	UTSW	5	112,724,678 (GRCm39)	splice site	probably null
R7502:Sez6l	UTSW	5	112,623,347 (GRCm39)	missense	possibly damaging	0.89
R7870:Sez6l	UTSW	5	112,586,447 (GRCm39)	missense	probably damaging	1.00
R8260:Sez6l	UTSW	5	112,609,122 (GRCm39)	missense	probably benign	0.23
R8325:Sez6l	UTSW	5	112,575,982 (GRCm39)	splice site	probably null
R8884:Sez6l	UTSW	5	112,622,910 (GRCm39)	missense	probably damaging	1.00
R8897:Sez6l	UTSW	5	112,588,744 (GRCm39)	missense	possibly damaging	0.94
R9071:Sez6l	UTSW	5	112,573,603 (GRCm39)	splice site	probably benign
R9142:Sez6l	UTSW	5	112,609,083 (GRCm39)	missense	probably benign	0.00
R9159:Sez6l	UTSW	5	112,613,824 (GRCm39)	missense	possibly damaging	0.52
X0052:Sez6l	UTSW	5	112,620,767 (GRCm39)	missense	possibly damaging	0.75
Z1088:Sez6l	UTSW	5	112,588,781 (GRCm39)	missense	probably damaging	1.00
Z1177:Sez6l	UTSW	5	112,724,798 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCAGTATCCTCACAGACGTAC -3'
(R):5'- AGCCTGACATAGTGCATGGC -3'

Sequencing Primer
(F):5'- GTATCCTCACAGACGTACCCACAG -3'
(R):5'- GTGTCCCTCAAAAGGTTACATGG -3'

Posted On

2019-09-13