Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Susd3'

657441

Institutional Source

Beutler Lab

Gene Symbol

Susd3

Ensembl Gene

ENSMUSG00000021384

Gene Name

sushi domain containing 3

Synonyms

1700017I11Rik, 2810440J20Rik

MMRRC Submission

067923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8479 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49384166-49402182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49390952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 113 (G113S)

Ref Sequence

ENSEMBL: ENSMUSP00000115888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021816] [ENSMUST00000058196] [ENSMUST00000119721] [ENSMUST00000135784]

AlphaFold

Q9D176

Predicted Effect

probably benign
Transcript: ENSMUST00000021816
AA Change: G176S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021816
Gene: ENSMUSG00000021384
AA Change: G176S

Domain	Start	End	E-Value	Type
CCP	20	79	2.11e-9	SMART
transmembrane domain	95	117	N/A	INTRINSIC
low complexity region	154	179	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058196
AA Change: G188S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000061423
Gene: ENSMUSG00000021384
AA Change: G188S

Domain	Start	End	E-Value	Type
CCP	32	91	2.11e-9	SMART
transmembrane domain	107	129	N/A	INTRINSIC
low complexity region	166	191	N/A	INTRINSIC
low complexity region	230	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119721

SMART Domains

Protein: ENSMUSP00000113631
Gene: ENSMUSG00000021384

Domain	Start	End	E-Value	Type
CCP	32	91	2.11e-9	SMART
transmembrane domain	107	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135784
AA Change: G113S

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115888
Gene: ENSMUSG00000021384
AA Change: G113S

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
low complexity region	91	116	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,061 (GRCm39)	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,581,986 (GRCm39)	G29D	probably benign	Het
Ano2	T	C	6: 125,689,123 (GRCm39)	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,892,932 (GRCm39)	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,896,520 (GRCm39)	T116A	probably benign	Het
Cacna2d2	T	C	9: 107,403,596 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,574,628 (GRCm39)	Y537*	probably null	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,736,707 (GRCm39)	A711V	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Crhbp	A	G	13: 95,578,632 (GRCm39)	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,441,502 (GRCm39)	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,763,893 (GRCm39)	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,735,573 (GRCm39)	V35A	probably damaging	Het
Ddx1	T	A	12: 13,270,749 (GRCm39)	N654I	probably damaging	Het
Dido1	A	T	2: 180,315,022 (GRCm39)		probably null	Het
Dmtf1	C	T	5: 9,170,428 (GRCm39)	V630I	probably damaging	Het
Ercc6	T	C	14: 32,248,363 (GRCm39)	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,972,629 (GRCm39)	S37T	possibly damaging	Het
Ess2	T	C	16: 17,728,805 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,419,862 (GRCm39)	M138T	probably damaging	Het
Galnt9	T	C	5: 110,692,617 (GRCm39)	V17A	probably benign	Het
Gm7324	T	C	14: 43,952,220 (GRCm39)	S288P	probably benign	Het
Gucy2e	G	A	11: 69,123,789 (GRCm39)	A370V	probably benign	Het
H2-T13	G	A	17: 36,395,111 (GRCm39)	A2V	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Ipo7	G	A	7: 109,638,452 (GRCm39)	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,459,977 (GRCm39)	Y201C	probably damaging	Het
Ly6g2	A	G	15: 75,089,626 (GRCm39)	T45A	probably damaging	Het
Mapkap1	A	T	2: 34,471,302 (GRCm39)	S389C	probably damaging	Het
Met	G	T	6: 17,491,746 (GRCm39)		probably null	Het
Misp	T	C	10: 79,663,750 (GRCm39)	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,071,051 (GRCm39)	L136P	probably damaging	Het
Muc4	C	T	16: 32,574,799 (GRCm39)	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,626,089 (GRCm39)	V70E	probably damaging	Het
Nphp4	T	C	4: 152,608,747 (GRCm39)	S452P	probably benign	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Or10ak11	A	G	4: 118,687,212 (GRCm39)	C141R	probably damaging	Het
Or5g25	A	G	2: 85,478,447 (GRCm39)	S73P	probably damaging	Het
Pros1	G	T	16: 62,728,102 (GRCm39)	G269W	probably damaging	Het
Rif1	A	C	2: 52,002,563 (GRCm39)	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734 (GRCm39)	A379V	probably benign	Het
Slc10a2	C	T	8: 5,148,443 (GRCm39)		probably null	Het
Tbc1d19	T	A	5: 54,041,031 (GRCm39)	M371K	possibly damaging	Het
Tnn	C	A	1: 159,950,397 (GRCm39)	R736S	probably benign	Het
Trio	T	C	15: 27,901,286 (GRCm39)	T323A	probably benign	Het
Ubqln1	G	A	13: 58,339,653 (GRCm39)	P324S	probably benign	Het
Uspl1	T	C	5: 149,152,004 (GRCm39)	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,282,735 (GRCm39)	I627N	probably damaging	Het
Wdr35	C	A	12: 9,035,985 (GRCm39)	T252K	probably benign	Het
Zfp62	T	C	11: 49,107,319 (GRCm39)	I470T	probably damaging	Het

Other mutations in Susd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Susd3	APN	13	49,384,614 (GRCm39)	makesense	probably null
IGL03336:Susd3	APN	13	49,392,258 (GRCm39)	missense	probably benign	0.09
R2122:Susd3	UTSW	13	49,384,626 (GRCm39)	missense	probably damaging	1.00
R2343:Susd3	UTSW	13	49,392,335 (GRCm39)	missense	probably damaging	0.99
R2923:Susd3	UTSW	13	49,401,945 (GRCm39)	start codon destroyed	probably null	0.95
R4591:Susd3	UTSW	13	49,384,736 (GRCm39)	missense	possibly damaging	0.57
R4661:Susd3	UTSW	13	49,384,778 (GRCm39)	splice site	probably null
R5006:Susd3	UTSW	13	49,392,181 (GRCm39)	intron	probably benign
R5841:Susd3	UTSW	13	49,392,202 (GRCm39)	intron	probably benign
R6285:Susd3	UTSW	13	49,390,997 (GRCm39)	missense	probably damaging	1.00
R6796:Susd3	UTSW	13	49,391,041 (GRCm39)	frame shift	probably null
R7193:Susd3	UTSW	13	49,384,679 (GRCm39)	missense	probably damaging	1.00
R7311:Susd3	UTSW	13	49,401,906 (GRCm39)	missense	probably benign	0.00
R7572:Susd3	UTSW	13	49,384,638 (GRCm39)	missense	probably benign	0.31
R7697:Susd3	UTSW	13	49,391,074 (GRCm39)	missense	probably damaging	1.00
R8239:Susd3	UTSW	13	49,384,731 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGTAGGTTCACCAGGGTC -3'
(R):5'- CCAAGATGGGCTGTGTAGAG -3'

Sequencing Primer
(F):5'- TCCCCAGAATGTAAGGTGGC -3'
(R):5'- ATGTCCACAGCTGTTGGGAGAC -3'

Posted On

2021-01-18