Mutagenetix > Incidental Mutation

Incidental Mutation 'R7502:Sez6l'

581540

Institutional Source

Beutler Lab

Gene Symbol

Sez6l

Ensembl Gene

ENSMUSG00000058153

Gene Name

seizure related 6 homolog like

Synonyms

Acig1

MMRRC Submission

045575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112567017-112725051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112623347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 68 (L68H)

Ref Sequence

ENSEMBL: ENSMUSP00000078454 (fasta)

Gene Model

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

AlphaFold

Q6P1D5

Predicted Effect

probably benign
Transcript: ENSMUST00000075387
AA Change: L68H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: L68H

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: L68H

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: L68H

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: L68H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: L68H

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 benign
Transcript: ENSMUST00000200575

Predicted Effect

probably benign
Transcript: ENSMUST00000212480
AA Change: L68H

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000212758
AA Change: L68H

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,743,951 (GRCm39)	T661A	probably damaging	Het
Actrt2	T	C	4: 154,751,383 (GRCm39)	Y251C	probably benign	Het
Adat3	T	A	10: 80,442,255 (GRCm39)	V31D	probably damaging	Het
Adgrf4	T	C	17: 42,980,548 (GRCm39)	H179R	possibly damaging	Het
Ahcyl1	A	T	3: 107,578,513 (GRCm39)	Y241*	probably null	Het
Anks1	C	A	17: 28,227,114 (GRCm39)	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Cacna1e	A	T	1: 154,344,734 (GRCm39)	M1130K	probably null	Het
Ccdc121rt1	G	A	1: 181,338,443 (GRCm39)	Q170*	probably null	Het
Ceacam18	A	T	7: 43,286,298 (GRCm39)	D57V	probably damaging	Het
Celf1	C	T	2: 90,835,100 (GRCm39)	Q194*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cep170	T	C	1: 176,583,595 (GRCm39)	D163G	probably damaging	Het
Cfap210	A	T	2: 69,606,488 (GRCm39)	D309E	probably benign	Het
Cftr	T	C	6: 18,214,295 (GRCm39)	F157S	probably damaging	Het
Chchd3	T	C	6: 32,945,164 (GRCm39)	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,460,963 (GRCm39)	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,753,075 (GRCm39)	V2266I	probably benign	Het
Ctr9	A	G	7: 110,633,133 (GRCm39)	D127G	probably benign	Het
Ctsl	A	T	13: 64,514,882 (GRCm39)	F141I	probably damaging	Het
Dcpp1	T	A	17: 24,101,615 (GRCm39)	Y121*	probably null	Het
Ddx42	T	C	11: 106,138,565 (GRCm39)	V788A	probably benign	Het
Ehd4	T	C	2: 119,921,874 (GRCm39)	I461V	probably benign	Het
Elp6	C	A	9: 110,134,376 (GRCm39)	L5I	possibly damaging	Het
Faap20	T	C	4: 155,334,793 (GRCm39)	S2P		Het
Fam98b	A	C	2: 117,094,344 (GRCm39)	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655 (GRCm39)	D30E	probably benign	Het
Fcrlb	T	C	1: 170,736,210 (GRCm39)	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,043,671 (GRCm39)	D302G	probably benign	Het
Gzmg	T	G	14: 56,394,284 (GRCm39)	E203D	not run	Het
Hsph1	A	C	5: 149,553,838 (GRCm39)	V210G	probably damaging	Het
Il20rb	A	T	9: 100,350,479 (GRCm39)	M138K	probably damaging	Het
Itpr1	A	T	6: 108,360,639 (GRCm39)	E688D	probably benign	Het
Jmjd1c	T	G	10: 67,067,794 (GRCm39)	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,780,062 (GRCm39)	T371S	possibly damaging	Het
Kif11	T	A	19: 37,398,255 (GRCm39)	S694T	possibly damaging	Het
Kpna7	T	A	5: 144,942,731 (GRCm39)	H85L	probably benign	Het
Lipf	A	T	19: 33,954,006 (GRCm39)	I366F	probably damaging	Het
Lrrc27	A	G	7: 138,794,748 (GRCm39)	H37R	probably benign	Het
Mki67	T	C	7: 135,302,512 (GRCm39)	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,820,210 (GRCm39)	S120P	probably damaging	Het
Nav1	A	G	1: 135,397,404 (GRCm39)	W922R	probably damaging	Het
Nwd1	A	G	8: 73,434,021 (GRCm39)	E1206G	probably damaging	Het
Obscn	T	C	11: 58,885,635 (GRCm39)	S7933G	unknown	Het
Or13j1	T	C	4: 43,706,316 (GRCm39)	H84R	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,010 (GRCm39)	V53A	probably benign	Het
Or2g25	T	A	17: 37,971,122 (GRCm39)	Y34F	probably damaging	Het
Or2k2	T	C	4: 58,785,648 (GRCm39)	I25V	probably benign	Het
Or4c52	T	C	2: 89,845,355 (GRCm39)	L27S	probably benign	Het
Otog	A	T	7: 45,948,039 (GRCm39)	I162F	probably damaging	Het
Paf1	G	A	7: 28,095,293 (GRCm39)	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,889,554 (GRCm39)	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitrm1	G	T	13: 6,610,658 (GRCm39)	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,004,819 (GRCm39)		probably null	Het
Plaat1	T	C	16: 29,046,919 (GRCm39)	V146A	probably benign	Het
Prorp	T	C	12: 55,351,206 (GRCm39)	Y172H	probably damaging	Het
Prrc2a	T	C	17: 35,381,286 (GRCm39)	N61S	unknown	Het
Ror1	T	A	4: 100,190,827 (GRCm39)	D61E	probably benign	Het
Ryr3	G	A	2: 112,542,706 (GRCm39)	P3168S	probably benign	Het
Serinc4	T	A	2: 121,284,250 (GRCm39)	I289F	probably damaging	Het
Sez6l2	A	G	7: 126,560,915 (GRCm39)	E460G	probably benign	Het
Sh3tc1	C	T	5: 35,863,406 (GRCm39)	G927D	probably damaging	Het
Slc22a27	G	C	19: 7,903,747 (GRCm39)	T130S	probably damaging	Het
Slc38a8	C	A	8: 120,227,820 (GRCm39)	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,958,134 (GRCm39)	N100D	probably damaging	Het
Slc49a3	G	A	5: 108,591,646 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,894,567 (GRCm39)	F382L	possibly damaging	Het
Sox1	A	G	8: 12,446,913 (GRCm39)	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,991,385 (GRCm39)	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,798,110 (GRCm39)	V1945A	probably benign	Het
St18	T	A	1: 6,898,194 (GRCm39)	N665K	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Syne2	G	A	12: 76,141,100 (GRCm39)	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,393,639 (GRCm39)	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,769,398 (GRCm39)	D71V	probably damaging	Het
Tnn	T	C	1: 159,937,929 (GRCm39)	D1196G	probably benign	Het
Ttll8	A	G	15: 88,817,639 (GRCm39)		probably null	Het
Tubgcp3	A	G	8: 12,691,207 (GRCm39)	F444L	probably damaging	Het
Txndc11	G	A	16: 10,905,742 (GRCm39)	P596L	probably benign	Het
Ubr4	C	T	4: 139,139,983 (GRCm39)	P1189S	possibly damaging	Het
Usp32	T	C	11: 84,913,724 (GRCm39)	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,686,188 (GRCm39)	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,421,761 (GRCm39)	M132I	probably benign	Het
Wnk2	A	T	13: 49,300,720 (GRCm39)		probably null	Het
Xbp1	A	G	11: 5,474,683 (GRCm39)		probably null	Het
Zfp551	A	T	7: 12,149,725 (GRCm39)	Y561*	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
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'- CAGTCTCTGCAGAGTTGTCG -3'
(R):5'- GTTAACTAATGGCTGCCTGTCCAG -3'

Sequencing Primer
(F):5'- CAGAGTTGTCGGGGTAGCCAG -3'
(R):5'- CACTTTTAGAGGCTACCGTCTAAGG -3'

Posted On

2019-10-17