Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Susd1'

384254

Institutional Source

Beutler Lab

Gene Symbol

Susd1

Ensembl Gene

ENSMUSG00000038578

Gene Name

sushi domain containing 1

Synonyms

Gm12528

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59314683-59438633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59351679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 461 (W461R)

Ref Sequence

ENSEMBL: ENSMUSP00000103168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040166] [ENSMUST00000107544]

AlphaFold

E9Q3H4

Predicted Effect

probably benign
Transcript: ENSMUST00000040166
AA Change: W514R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: W514R

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	16	30	N/A	INTRINSIC
EGF	43	77	1.36e1	SMART
EGF_CA	78	129	2.92e-7	SMART
EGF_CA	130	180	2.22e-12	SMART
CCP	184	239	7.87e-9	SMART
CCP	244	299	5.48e-8	SMART
Blast:FN3	306	379	2e-6	BLAST
Blast:FN3	459	580	8e-50	BLAST
transmembrane domain	729	751	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107544
AA Change: W461R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: W461R

Domain	Start	End	E-Value	Type
EGF	28	76	2.02e-1	SMART
EGF_CA	77	127	2.22e-12	SMART
CCP	131	186	7.87e-9	SMART
CCP	191	246	5.48e-8	SMART
Blast:FN3	253	326	2e-6	BLAST
Blast:FN3	406	527	4e-50	BLAST
transmembrane domain	676	698	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136077

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	Het

Other mutations in Susd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Susd1	APN	4	59,365,817 (GRCm39)	missense	possibly damaging	0.85
IGL01705:Susd1	APN	4	59,332,931 (GRCm39)	splice site	probably benign
IGL01727:Susd1	APN	4	59,412,329 (GRCm39)	splice site	probably benign
IGL02015:Susd1	APN	4	59,315,745 (GRCm39)	missense	possibly damaging	0.86
IGL02102:Susd1	APN	4	59,369,636 (GRCm39)	missense	possibly damaging	0.70
IGL02351:Susd1	APN	4	59,427,985 (GRCm39)	nonsense	probably null
IGL02358:Susd1	APN	4	59,427,985 (GRCm39)	nonsense	probably null
IGL03210:Susd1	APN	4	59,333,035 (GRCm39)	critical splice acceptor site	probably null
IGL03258:Susd1	APN	4	59,379,655 (GRCm39)	missense	possibly damaging	0.73
R0612:Susd1	UTSW	4	59,390,561 (GRCm39)	splice site	probably benign
R0719:Susd1	UTSW	4	59,329,506 (GRCm39)	missense	possibly damaging	0.56
R0722:Susd1	UTSW	4	59,379,749 (GRCm39)	missense	possibly damaging	0.73
R1355:Susd1	UTSW	4	59,424,114 (GRCm39)	missense	possibly damaging	0.86
R1672:Susd1	UTSW	4	59,411,395 (GRCm39)	missense	probably damaging	0.98
R1677:Susd1	UTSW	4	59,424,089 (GRCm39)	missense	possibly damaging	0.85
R1921:Susd1	UTSW	4	59,412,191 (GRCm39)	missense	probably benign	0.03
R1933:Susd1	UTSW	4	59,351,695 (GRCm39)	missense	possibly damaging	0.72
R1998:Susd1	UTSW	4	59,349,925 (GRCm39)	missense	probably benign	0.03
R2202:Susd1	UTSW	4	59,349,843 (GRCm39)	missense	possibly damaging	0.96
R2203:Susd1	UTSW	4	59,349,843 (GRCm39)	missense	possibly damaging	0.96
R2204:Susd1	UTSW	4	59,349,843 (GRCm39)	missense	possibly damaging	0.96
R2329:Susd1	UTSW	4	59,379,715 (GRCm39)	missense	possibly damaging	0.85
R2510:Susd1	UTSW	4	59,349,855 (GRCm39)	missense	possibly damaging	0.86
R4512:Susd1	UTSW	4	59,329,491 (GRCm39)	missense	possibly damaging	0.96
R4732:Susd1	UTSW	4	59,428,029 (GRCm39)	missense	possibly damaging	0.53
R4733:Susd1	UTSW	4	59,428,029 (GRCm39)	missense	possibly damaging	0.53
R5121:Susd1	UTSW	4	59,379,657 (GRCm39)	missense	possibly damaging	0.73
R5548:Susd1	UTSW	4	59,369,577 (GRCm39)	missense	probably benign	0.05
R5747:Susd1	UTSW	4	59,424,108 (GRCm39)	missense	probably damaging	0.98
R5776:Susd1	UTSW	4	59,315,363 (GRCm39)	utr 3 prime	probably benign
R5875:Susd1	UTSW	4	59,412,203 (GRCm39)	missense	possibly damaging	0.71
R6056:Susd1	UTSW	4	59,379,687 (GRCm39)	missense	possibly damaging	0.53
R6081:Susd1	UTSW	4	59,411,359 (GRCm39)	missense	possibly damaging	0.86
R7018:Susd1	UTSW	4	59,390,627 (GRCm39)	missense	probably benign	0.44
R7122:Susd1	UTSW	4	59,411,318 (GRCm39)	nonsense	probably null
R7161:Susd1	UTSW	4	59,329,581 (GRCm39)	missense	possibly damaging	0.85
R7172:Susd1	UTSW	4	59,315,420 (GRCm39)	splice site	probably null
R7891:Susd1	UTSW	4	59,349,915 (GRCm39)	missense	possibly damaging	0.85
R8103:Susd1	UTSW	4	59,365,916 (GRCm39)	critical splice acceptor site	probably null
R8299:Susd1	UTSW	4	59,315,773 (GRCm39)	missense	probably benign	0.33
R8472:Susd1	UTSW	4	59,332,985 (GRCm39)	missense	possibly damaging	0.96
R8831:Susd1	UTSW	4	59,379,594 (GRCm39)	splice site	probably benign
R8903:Susd1	UTSW	4	59,390,576 (GRCm39)	missense	probably benign	0.02
R8981:Susd1	UTSW	4	59,380,883 (GRCm39)	missense	probably benign	0.07
R9002:Susd1	UTSW	4	59,324,882 (GRCm39)	missense	probably benign	0.00
R9091:Susd1	UTSW	4	59,412,226 (GRCm39)	missense	probably benign	0.44
R9270:Susd1	UTSW	4	59,412,226 (GRCm39)	missense	probably benign	0.44
R9296:Susd1	UTSW	4	59,427,865 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATACATCTCTGCCAACGG -3'
(R):5'- AAACTGCTGCCTCTGACTTC -3'

Sequencing Primer
(F):5'- GCACTGAATCTCCTGGAAATGG -3'
(R):5'- GCCTCTGACTTCTGAATCAAAATAC -3'

Posted On

2016-04-27