Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Sez6l'

211294

Institutional Source

Beutler Lab

Gene Symbol

Sez6l

Ensembl Gene

ENSMUSG00000058153

Gene Name

seizure related 6 homolog like

Synonyms

Acig1

MMRRC Submission

039899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1878 (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 112623089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 154 (I154T)

Ref Sequence

ENSEMBL: ENSMUSP00000148806 (fasta)

Gene Model

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

AlphaFold

Q6P1D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075387
AA Change: I154T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: I154T

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: I154T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: I154T

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: I154T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: I154T

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 damaging
Transcript: ENSMUST00000212480
AA Change: I154T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212758
AA Change: I154T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,825,564 (GRCm39)		probably null	Het
Abcb9	A	G	5: 124,228,199 (GRCm39)	V14A	probably benign	Het
Adcy4	T	C	14: 56,007,362 (GRCm39)	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,603,074 (GRCm39)	D828G	possibly damaging	Het
Ak2	T	A	4: 128,895,960 (GRCm39)	V79D	probably damaging	Het
Arhgap29	T	C	3: 121,805,020 (GRCm39)	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,134,363 (GRCm39)	K1222E	probably damaging	Het
Armc1	A	T	3: 19,211,708 (GRCm39)	D37E	probably damaging	Het
Cenpm	A	T	15: 82,118,616 (GRCm39)	M166K	probably benign	Het
Cep97	G	T	16: 55,725,589 (GRCm39)	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,356,476 (GRCm39)	D672E	probably benign	Het
Col6a2	T	C	10: 76,450,622 (GRCm39)	D103G	probably benign	Het
Ddi2	T	C	4: 141,411,460 (GRCm39)	E484G	probably benign	Het
Dph1	T	C	11: 75,075,053 (GRCm39)	D100G	probably damaging	Het
Dsp	A	T	13: 38,348,831 (GRCm39)	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,034,042 (GRCm39)		probably null	Het
Folh1	A	T	7: 86,420,950 (GRCm39)	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,615,212 (GRCm39)	D428E	probably benign	Het
Gfus	A	G	15: 75,797,218 (GRCm39)	S306P	probably benign	Het
Gm11564	A	T	11: 99,706,266 (GRCm39)	C55S	unknown	Het
Gne	T	C	4: 44,040,434 (GRCm39)	I577V	probably damaging	Het
Gpr4	A	G	7: 18,957,049 (GRCm39)	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,286,319 (GRCm39)	N542I	possibly damaging	Het
Ice2	T	C	9: 69,335,858 (GRCm39)		probably null	Het
Irgm1	C	T	11: 48,756,897 (GRCm39)	V305I	probably benign	Het
Itgal	C	A	7: 126,909,843 (GRCm39)	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857 (GRCm39)	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,140,878 (GRCm39)	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,522,938 (GRCm39)		probably null	Het
Mcc	T	C	18: 44,601,467 (GRCm39)	R621G	possibly damaging	Het
Myd88	T	A	9: 119,167,686 (GRCm39)	Q140L	probably benign	Het
Mylk3	A	T	8: 86,082,028 (GRCm39)	N323K	possibly damaging	Het
Myrip	C	T	9: 120,253,721 (GRCm39)	R265W	probably damaging	Het
N4bp1	A	T	8: 87,588,169 (GRCm39)	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,400,027 (GRCm39)	S418A	probably damaging	Het
Nlrp9b	A	G	7: 19,762,489 (GRCm39)	T269A	probably benign	Het
Nmt1	A	G	11: 102,943,077 (GRCm39)	N144S	probably benign	Het
Npvf	G	A	6: 50,631,303 (GRCm39)	T24I	probably benign	Het
Obscn	T	G	11: 58,886,379 (GRCm39)	Y2347S	probably damaging	Het
Or10d5	T	A	9: 39,862,053 (GRCm39)	T5S	probably benign	Het
Or14j1	T	C	17: 38,146,253 (GRCm39)	V121A	probably benign	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or2aj5	G	T	16: 19,424,501 (GRCm39)	Q306K	probably benign	Het
Or2n1c	T	C	17: 38,519,265 (GRCm39)	I43T	probably benign	Het
Or4c105	A	G	2: 88,647,805 (GRCm39)	T97A	probably benign	Het
Or51v8	A	C	7: 103,319,389 (GRCm39)	M283R	probably damaging	Het
Or7a42	T	A	10: 78,791,639 (GRCm39)	M200K	possibly damaging	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,278,215 (GRCm39)	K398N	possibly damaging	Het
Pcnp	A	T	16: 55,838,850 (GRCm39)	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,503,639 (GRCm39)	I71V	probably benign	Het
Ppp4c	G	T	7: 126,386,779 (GRCm39)	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,179,911 (GRCm39)	M1L	probably damaging	Het
Recql5	A	T	11: 115,785,927 (GRCm39)	D615E	probably benign	Het
Robo3	T	C	9: 37,333,461 (GRCm39)	E728G	probably damaging	Het
Rps27l	T	A	9: 66,854,911 (GRCm39)		probably null	Het
Scube3	T	A	17: 28,371,387 (GRCm39)	V34E	probably benign	Het
Sgsm1	G	A	5: 113,411,381 (GRCm39)	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,289,398 (GRCm39)	V36A	probably benign	Het
Snapc4	A	G	2: 26,266,165 (GRCm39)		probably null	Het
Sohlh2	C	A	3: 55,115,064 (GRCm39)	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sspo	G	A	6: 48,436,300 (GRCm39)	A1217T	possibly damaging	Het
Stil	T	C	4: 114,898,423 (GRCm39)	S1018P	probably damaging	Het
Strn	T	C	17: 78,984,755 (GRCm39)	E117G	possibly damaging	Het
Syt17	A	T	7: 118,033,468 (GRCm39)	M180K	probably benign	Het
Trem1	T	C	17: 48,548,516 (GRCm39)	S18P	possibly damaging	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc80	A	C	1: 66,548,561 (GRCm39)	H611P	probably damaging	Het
Zfp1004	T	A	2: 150,034,989 (GRCm39)	C437S	probably damaging	Het
Zfp709	A	G	8: 72,643,891 (GRCm39)	E440G	probably damaging	Het
Zfp764	C	A	7: 127,004,214 (GRCm39)	A306S	probably benign	Het
Zfp949	T	A	9: 88,451,356 (GRCm39)	S309T	probably damaging	Het
Zswim4	T	C	8: 84,939,405 (GRCm39)	N826D	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
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
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'- GAGATGAGCCTCGTATACCTGG -3'
(R):5'- AATGGAAGAGTCCTTGCCCC -3'

Sequencing Primer
(F):5'- TCGTATACCTGGGGCCTG -3'
(R):5'- TGTCCAGCACACGCCTG -3'

Posted On

2014-06-30