Mutagenetix > Incidental Mutations

Incidental Mutation 'R3423:Sez6l'

267111

Institutional Source

Beutler Lab

Gene Symbol

Sez6l

Ensembl Gene

ENSMUSG00000058153

Gene Name

seizure related 6 homolog like

Synonyms

Acig1

MMRRC Submission

040641-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112419151-112577185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112426749 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 875 (D875G)

Ref Sequence

ENSEMBL: ENSMUSP00000148791 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075387
AA Change: D875G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: D875G

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

possibly damaging
Transcript: ENSMUST00000079491
AA Change: D875G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: D875G

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: D810G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: D810G

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: D625G

Predicted Effect

probably damaging
Transcript: ENSMUST00000212480
AA Change: D875G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212758

Meta Mutation Damage Score

0.4125

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	A	G	17: 32,316,455	F195S	possibly damaging	Het
Aldh3a1	G	A	11: 61,215,536	A246T	probably damaging	Het
Caskin1	T	A	17: 24,499,565	N331K	probably damaging	Het
Ceacam5	G	A	7: 17,757,637	S644N	possibly damaging	Het
Csmd3	A	T	15: 47,847,252	D1646E	probably damaging	Het
Cyp4a12a	A	C	4: 115,327,274	K282T	probably benign	Het
Dtnb	C	T	12: 3,591,962	R42*	probably null	Het
Dyrk3	A	G	1: 131,129,482	I318T	probably damaging	Het
Fam160b2	G	A	14: 70,586,585	T535M	probably damaging	Het
Gm11110	T	C	17: 57,103,435		probably benign	Het
Gm8674	T	A	13: 49,901,756		noncoding transcript	Het
Igfn1	A	G	1: 135,998,641	S24P	probably benign	Het
Inpp4b	A	G	8: 81,952,261	M307V	possibly damaging	Het
Ism2	T	C	12: 87,287,097	N58S	probably benign	Het
Kmt2a	A	C	9: 44,820,097		probably benign	Het
Limk1	A	G	5: 134,672,669		probably null	Het
Lrrc14	T	A	15: 76,713,118		probably null	Het
Mapt	C	T	11: 104,298,722	R189*	probably null	Het
Meltf	C	T	16: 31,896,525	R679*	probably null	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Mug2	T	C	6: 122,047,506		probably benign	Het
Myo15	G	A	11: 60,510,300		probably null	Het
Nup98	T	C	7: 102,184,877	T293A	probably benign	Het
Nwd2	A	T	5: 63,800,161	Y278F	probably damaging	Het
Olfr101	T	A	17: 37,299,870	D184V	probably benign	Het
Phactr4	A	C	4: 132,369,747	D496E	probably benign	Het
Pramel6	T	A	2: 87,510,796		probably null	Het
Ptprq	C	T	10: 107,582,476	A1680T	probably damaging	Het
Retnlb	T	A	16: 48,818,645	C70S	probably damaging	Het
Ros1	C	A	10: 52,128,416		probably null	Het
Slc18b1	T	G	10: 23,822,976	M348R	probably damaging	Het
Slc36a3	G	T	11: 55,142,781	T137K	probably benign	Het
Sos2	T	C	12: 69,603,553	N865D	probably damaging	Het
Sp9	G	A	2: 73,273,971	A290T	probably benign	Het
Spg11	C	T	2: 122,071,053	V1469I	probably benign	Het
Unc13c	G	T	9: 73,930,653	A972D	possibly damaging	Het
Vwa3a	T	C	7: 120,799,111	L945P	probably damaging	Het

Other mutations in Sez6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Sez6l	APN	5	112424645	missense	probably damaging	1.00
IGL00494:Sez6l	APN	5	112463003	missense	probably damaging	1.00
IGL00693:Sez6l	APN	5	112422013	missense	probably damaging	1.00
IGL01146:Sez6l	APN	5	112428409	missense	probably damaging	1.00
IGL01382:Sez6l	APN	5	112425621	missense	probably benign	0.00
IGL01393:Sez6l	APN	5	112438395	splice site	probably benign
IGL01961:Sez6l	APN	5	112471731	missense	probably damaging	1.00
IGL02101:Sez6l	APN	5	112472746	missense	probably damaging	1.00
IGL02104:Sez6l	APN	5	112426764	intron	probably benign
IGL02316:Sez6l	APN	5	112462962	missense	probably damaging	1.00
IGL02965:Sez6l	APN	5	112475574	missense	probably damaging	0.99
IGL03102:Sez6l	APN	5	112475403	missense	probably benign	0.02
IGL03112:Sez6l	APN	5	112473467	missense	probably damaging	1.00
IGL03180:Sez6l	APN	5	112436285	missense	probably damaging	1.00
ranger	UTSW	5	112576812	splice site	probably null
R0245:Sez6l	UTSW	5	112475566	missense	probably benign
R0662:Sez6l	UTSW	5	112473422	missense	probably damaging	1.00
R1227:Sez6l	UTSW	5	112473464	missense	probably damaging	1.00
R1605:Sez6l	UTSW	5	112475049	missense	probably damaging	1.00
R1873:Sez6l	UTSW	5	112473410	splice site	probably benign
R1878:Sez6l	UTSW	5	112475223	missense	probably damaging	0.98
R1892:Sez6l	UTSW	5	112472799	missense	probably damaging	1.00
R1961:Sez6l	UTSW	5	112424615	splice site	probably benign
R2038:Sez6l	UTSW	5	112472752	missense	possibly damaging	0.81
R2212:Sez6l	UTSW	5	112475361	missense	possibly damaging	0.76
R2315:Sez6l	UTSW	5	112464597	missense	probably benign	0.02
R2343:Sez6l	UTSW	5	112464731	missense	probably damaging	1.00
R3412:Sez6l	UTSW	5	112475361	missense	possibly damaging	0.76
R3413:Sez6l	UTSW	5	112475361	missense	possibly damaging	0.76
R3425:Sez6l	UTSW	5	112426749	missense	probably damaging	0.99
R4081:Sez6l	UTSW	5	112461166	missense	probably benign	0.01
R4574:Sez6l	UTSW	5	112428478	missense	probably damaging	1.00
R5792:Sez6l	UTSW	5	112422024	nonsense	probably null
R5864:Sez6l	UTSW	5	112438400	critical splice donor site	probably null
R6236:Sez6l	UTSW	5	112475244	missense	possibly damaging	0.86
R6274:Sez6l	UTSW	5	112475365	nonsense	probably null
R6466:Sez6l	UTSW	5	112461141	splice site	probably null
R6574:Sez6l	UTSW	5	112576826	missense	possibly damaging	0.89
R7008:Sez6l	UTSW	5	112464695	missense	probably damaging	1.00
R7241:Sez6l	UTSW	5	112473480	missense	probably benign
R7329:Sez6l	UTSW	5	112440907	missense	probably damaging	0.99
R7335:Sez6l	UTSW	5	112576812	splice site	probably null
R7502:Sez6l	UTSW	5	112475481	missense	possibly damaging	0.89
R7870:Sez6l	UTSW	5	112438581	missense	probably damaging	1.00
R8260:Sez6l	UTSW	5	112461256	missense	probably benign	0.23
R8325:Sez6l	UTSW	5	112428116	splice site	probably null
X0052:Sez6l	UTSW	5	112472901	missense	possibly damaging	0.75
Z1088:Sez6l	UTSW	5	112440915	missense	probably damaging	1.00
Z1177:Sez6l	UTSW	5	112576932	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTCCATAGGAACAAGCCAC -3'
(R):5'- CATGACACTGCGGATGCTTG -3'

Sequencing Primer
(F):5'- CTCACATGGGTGCTGGAAAC -3'
(R):5'- TGCGGATGCTTGCCCATC -3'

Posted On

2015-02-18