Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Sez6l'

678088

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 #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112567017-112725051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112588744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 656 (Q656H)

Ref Sequence

ENSEMBL: ENSMUSP00000078454 (fasta)

Gene Model

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

AlphaFold

Q6P1D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075387
AA Change: Q656H

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: Q656H

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: Q656H

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: Q656H

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: Q656H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: Q656H

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: Q656H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212758
AA Change: Q656H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Ap4b1	A	T	3: 103,729,065 (GRCm39)	I736L	probably benign	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cacna1s	C	G	1: 136,045,392 (GRCm39)	T1680S	probably benign	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mc4r	A	G	18: 66,992,304 (GRCm39)	S270P	probably damaging	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Myh4	G	A	11: 67,137,362 (GRCm39)	E528K	possibly damaging	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tab2	T	C	10: 7,786,897 (GRCm39)	D605G	probably damaging	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Thap12	T	C	7: 98,364,534 (GRCm39)	M234T	probably benign	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	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
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
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'- TCCACAATGGTGTTCCTAAAACTAC -3'
(R):5'- GGTGTTTATGCAGACAGACAGG -3'

Sequencing Primer
(F):5'- TGGTGTTCCTAAAACTACACAGGAC -3'
(R):5'- TTTATGCAGACAGACAGGAGCCTC -3'

Posted On

2021-08-02