Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Susd3'

593730

Institutional Source

Beutler Lab

Gene Symbol

Susd3

Ensembl Gene

ENSMUSG00000021384

Gene Name

sushi domain containing 3

Synonyms

1700017I11Rik, 2810440J20Rik

Accession Numbers

Essential gene?

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

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49384166-49402182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49391074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 147 (W147L)

Ref Sequence

ENSEMBL: ENSMUSP00000061423 (fasta)

Gene Model

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

AlphaFold

Q9D176

Predicted Effect

probably damaging
Transcript: ENSMUST00000021816
AA Change: W135L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021816
Gene: ENSMUSG00000021384
AA Change: W135L

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 damaging
Transcript: ENSMUST00000058196
AA Change: W147L

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

SMART Domains

Protein: ENSMUSP00000061423
Gene: ENSMUSG00000021384
AA Change: W147L

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 damaging
Transcript: ENSMUST00000135784
AA Change: W72L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115888
Gene: ENSMUSG00000021384
AA Change: W72L

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: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	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
R8239:Susd3	UTSW	13	49,384,731 (GRCm39)	missense	probably benign
R8479:Susd3	UTSW	13	49,390,952 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CCCACCTTAGGACTAGGGTAAC -3'
(R):5'- TGACAGTGACACGCTCTTCC -3'

Sequencing Primer
(F):5'- CCTACGTGGTGAAGCTGTG -3'
(R):5'- GTCCCTGGCTGCTAACATCAG -3'

Posted On

2019-11-12