Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Susd1'

446689

Institutional Source

Beutler Lab

Gene Symbol

Susd1

Ensembl Gene

ENSMUSG00000038578

Gene Name

sushi domain containing 1

Synonyms

Gm12528

MMRRC Submission

043375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5776 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

59314683-59438633 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 59315363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103168 (fasta)

Gene Model

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

AlphaFold

E9Q3H4

Predicted Effect

probably benign
Transcript: ENSMUST00000040166

SMART Domains

Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578

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

SMART Domains

Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578

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: ENSMUST00000136942

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,649 (GRCm39)	M378K	possibly damaging	Het
Abca17	A	G	17: 24,514,132 (GRCm39)	V857A	probably benign	Het
Abca9	C	T	11: 109,998,286 (GRCm39)		probably null	Het
Adam22	T	C	5: 8,177,361 (GRCm39)	K583E	probably benign	Het
Akr1c13	T	C	13: 4,244,186 (GRCm39)	F80L	probably damaging	Het
Apob	A	T	12: 8,056,149 (GRCm39)	I1511F	possibly damaging	Het
Ccdc168	T	C	1: 44,095,665 (GRCm39)	E1811G	possibly damaging	Het
Cfh	C	A	1: 140,071,761 (GRCm39)	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,840,550 (GRCm39)	S1114F	unknown	Het
Ctsj	T	C	13: 61,150,956 (GRCm39)	D168G	probably damaging	Het
Erf	T	C	7: 24,945,534 (GRCm39)	D79G	probably damaging	Het
Extl1	T	C	4: 134,085,083 (GRCm39)	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,002,469 (GRCm39)	E204G	probably damaging	Het
Fdx2	C	A	9: 20,984,778 (GRCm39)	V9L	possibly damaging	Het
Gfer	G	T	17: 24,915,027 (GRCm39)	S5R	probably benign	Het
Gm15931	A	T	7: 4,284,564 (GRCm39)		noncoding transcript	Het
Gm6309	T	A	5: 146,105,691 (GRCm39)	I158F	possibly damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hacl1	A	T	14: 31,344,828 (GRCm39)	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,055,412 (GRCm39)	A612T	probably benign	Het
Hectd1	T	A	12: 51,810,897 (GRCm39)	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,228,405 (GRCm39)	L285P	probably damaging	Het
Igsf3	G	A	3: 101,332,796 (GRCm39)	V25I	probably benign	Het
Jade1	A	G	3: 41,568,227 (GRCm39)	H765R	probably benign	Het
Kcnv1	T	C	15: 44,977,963 (GRCm39)	D25G	unknown	Het
Klhl3	A	G	13: 58,152,998 (GRCm39)	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,569,072 (GRCm39)	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,765 (GRCm39)	C835Y	probably damaging	Het
Naa15	A	C	3: 51,367,447 (GRCm39)	D490A	probably damaging	Het
Nab2	T	A	10: 127,500,198 (GRCm39)	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,838,919 (GRCm39)	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,326,649 (GRCm39)		noncoding transcript	Het
Nol4l	T	G	2: 153,259,741 (GRCm39)	Q211P	probably damaging	Het
Oga	T	C	19: 45,760,363 (GRCm39)	E265G	probably damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Or6k14	A	T	1: 173,927,339 (GRCm39)	H105L	probably damaging	Het
Pkhd1	T	C	1: 20,279,409 (GRCm39)	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,411,983 (GRCm39)	T683A	probably damaging	Het
Ppm1g	T	C	5: 31,362,454 (GRCm39)	D282G	probably benign	Het
Ppp6r3	A	G	19: 3,576,901 (GRCm39)	S10P	possibly damaging	Het
Raph1	G	A	1: 60,529,315 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,268,325 (GRCm39)	V935A	possibly damaging	Het
Reg4	T	A	3: 98,140,344 (GRCm39)	D108E	possibly damaging	Het
Saraf	T	A	8: 34,632,604 (GRCm39)	Y228N	probably damaging	Het
Sctr	T	C	1: 119,984,137 (GRCm39)	S357P	probably damaging	Het
Sec22b	A	T	3: 97,821,884 (GRCm39)	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,398,823 (GRCm39)	I1037F	probably damaging	Het
Skint5	A	C	4: 113,620,700 (GRCm39)	S671R	unknown	Het
Slc38a3	C	A	9: 107,535,948 (GRCm39)	E62*	probably null	Het
Slfn14	C	T	11: 83,174,425 (GRCm39)	E189K	probably damaging	Het
Sox21	A	G	14: 118,472,656 (GRCm39)	L131P	probably damaging	Het
Stip1	A	G	19: 6,999,393 (GRCm39)		probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tdrd7	T	A	4: 46,005,689 (GRCm39)	D498E	probably benign	Het
Tln2	C	T	9: 67,165,532 (GRCm39)	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,692,211 (GRCm39)	D103G	probably damaging	Het
Txndc15	A	G	13: 55,865,920 (GRCm39)	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,614,673 (GRCm39)	W306R	probably damaging	Het
Yjefn3	A	T	8: 70,342,121 (GRCm39)	L33Q	probably damaging	Het
Zfp641	T	C	15: 98,186,891 (GRCm39)	D244G	probably 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
R4969:Susd1	UTSW	4	59,351,679 (GRCm39)	missense	probably benign	0.04
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
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'- TTGGACATGAGTCTTGAGGTCAC -3'
(R):5'- GAATAGTGATGACCACCCCATC -3'

Sequencing Primer
(F):5'- TGAGGTCACAGATATACAACTGATCC -3'
(R):5'- TGATGACCACCCCATCAGTCC -3'

Posted On

2016-12-15