Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Sap18'

531035

Institutional Source

Beutler Lab

Gene Symbol

Sap18

Ensembl Gene

ENSMUSG00000021963

Gene Name

Sin3-associated polypeptide 18

Synonyms

Sinbp1, D11Ertd539e, Sap18a, C530046K05Rik, EMegR4

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6755 (G1)

Quality Score

112.008

Status

Not validated

Chromosome

Chromosomal Location

58035646-58042437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58039474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 153 (D153A)

Ref Sequence

ENSEMBL: ENSMUSP00000120071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000111267] [ENSMUST00000111268] [ENSMUST00000111269] [ENSMUST00000128764] [ENSMUST00000143600]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022536

SMART Domains

Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965

Domain	Start	End	E-Value	Type
PDB:4AJ5\|Z	1	101	3e-46	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000111267
AA Change: D73A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106898
Gene: ENSMUSG00000021963
AA Change: D73A

Domain	Start	End	E-Value	Type
Pfam:SAP18	1	76	3.4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111268
AA Change: D73A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106899
Gene: ENSMUSG00000021963
AA Change: D73A

Domain	Start	End	E-Value	Type
Pfam:SAP18	1	76	3.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111269

SMART Domains

Protein: ENSMUSP00000106900
Gene: ENSMUSG00000021963

Domain	Start	End	E-Value	Type
Pfam:SAP18	35	104	4.2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128764
AA Change: D153A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120071
Gene: ENSMUSG00000021963
AA Change: D153A

Domain	Start	End	E-Value	Type
Pfam:SAP18	38	156	2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131455

Predicted Effect

probably damaging
Transcript: ENSMUST00000143600
AA Change: D92A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121525
Gene: ENSMUSG00000021963
AA Change: D92A

Domain	Start	End	E-Value	Type
Pfam:SAP18	1	95	2.6e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175043

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	probably benign	Het

Other mutations in Sap18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2018:Sap18	UTSW	14	58,036,021 (GRCm39)	missense	probably damaging	1.00
R2118:Sap18	UTSW	14	58,036,011 (GRCm39)	missense	probably damaging	0.99
R2119:Sap18	UTSW	14	58,036,011 (GRCm39)	missense	probably damaging	0.99
R2121:Sap18	UTSW	14	58,036,011 (GRCm39)	missense	probably damaging	0.99
R2122:Sap18	UTSW	14	58,036,011 (GRCm39)	missense	probably damaging	0.99
R2124:Sap18	UTSW	14	58,036,011 (GRCm39)	missense	probably damaging	0.99
R3153:Sap18	UTSW	14	58,039,402 (GRCm39)	missense	probably benign
R4827:Sap18	UTSW	14	58,036,020 (GRCm39)	missense	probably damaging	1.00
R5408:Sap18	UTSW	14	58,039,431 (GRCm39)	missense	probably benign
R6287:Sap18	UTSW	14	58,035,771 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCACCCCTGTAGTCTGCAC -3'
(R):5'- ACCTGGGCTGATTGAACACATG -3'

Sequencing Primer
(F):5'- GTAGTCTGCACCGTTCTGTTGATAC -3'
(R):5'- CTGGGCTGATTGAACACATGTATTTC -3'

Posted On

2018-08-01