Mutagenetix > Incidental Mutation

Incidental Mutation 'R2315:Sez6l'

245452

Institutional Source

Beutler Lab

Gene Symbol

Sez6l

Ensembl Gene

ENSMUSG00000058153

Gene Name

seizure related 6 homolog like

Synonyms

Acig1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2315 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112567017-112725051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112612463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 493 (S493P)

Ref Sequence

ENSEMBL: ENSMUSP00000148791 (fasta)

Gene Model

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

AlphaFold

Q6P1D5

Predicted Effect

probably benign
Transcript: ENSMUST00000075387
AA Change: S493P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: S493P

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 benign
Transcript: ENSMUST00000079491
AA Change: S493P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: S493P

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 benign
Transcript: ENSMUST00000197425
AA Change: S493P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: S493P

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

unknown
Transcript: ENSMUST00000200575
AA Change: S307P

Predicted Effect

probably benign
Transcript: ENSMUST00000212480
AA Change: S493P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000212758
AA Change: S493P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cnot1	C	T	8: 96,475,690 (GRCm39)	G995R	probably damaging	Het
Cntn2	T	C	1: 132,450,735 (GRCm39)	T547A	probably benign	Het
Ddx20	A	G	3: 105,586,015 (GRCm39)	Y777H	probably damaging	Het
Fbxo32	T	C	15: 58,071,431 (GRCm39)	N50S	probably benign	Het
Fsip2	G	C	2: 82,805,437 (GRCm39)	M585I	probably benign	Het
Gm13941	A	G	2: 110,935,162 (GRCm39)	S23P	unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Hoxa2	A	G	6: 52,139,871 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,124,676 (GRCm39)	I562V	probably benign	Het
Kif20b	T	A	19: 34,908,999 (GRCm39)	L179M	probably damaging	Het
Myl3	T	C	9: 110,595,809 (GRCm39)	L102P	probably damaging	Het
Pag1	C	T	3: 9,764,824 (GRCm39)	V110I	probably damaging	Het
Scube2	A	G	7: 109,403,908 (GRCm39)	F861L	probably damaging	Het
Serpina3n	A	T	12: 104,378,627 (GRCm39)	I316F	possibly damaging	Het
Sult1c2	T	A	17: 54,145,521 (GRCm39)	T52S	possibly damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Vmn2r17	A	C	5: 109,575,897 (GRCm39)	D256A	probably damaging	Het
Xylb	T	C	9: 119,188,335 (GRCm39)	F47S	probably benign	Het
Zim1	T	C	7: 6,680,067 (GRCm39)	D532G	possibly 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
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
R7329:Sez6l	UTSW	5	112,588,773 (GRCm39)	missense	probably damaging	0.99
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'- TCAGGCACCAGTATAAGAACTGC -3'
(R):5'- CCTGCAAGACATGTCAGCATCC -3'

Sequencing Primer
(F):5'- CACCAGTATAAGAACTGCTTAGAAG -3'
(R):5'- AGACATGTCAGCATCCCTCTG -3'

Posted On

2014-10-30