Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Susd1'

545438

Institutional Source

Beutler Lab

Gene Symbol

Susd1

Ensembl Gene

ENSMUSG00000038578

Gene Name

sushi domain containing 1

Synonyms

Gm12528

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

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

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59314683-59438633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59390627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 230 (T230P)

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: T283P

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: T283P

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: T230P

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: T230P

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

Meta Mutation Damage Score

0.3936

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 63,070,120 (GRCm39)	R129L	probably damaging	Het
Arhgef28	C	T	13: 98,101,943 (GRCm39)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,265,665 (GRCm39)	V1569A	probably damaging	Het
Atr	T	A	9: 95,748,747 (GRCm39)	S431T	probably benign	Het
Cdh11	T	C	8: 103,360,953 (GRCm39)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,967,130 (GRCm39)	S85P	probably benign	Het
Dip2c	T	A	13: 9,709,314 (GRCm39)	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,454,509 (GRCm39)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,461,795 (GRCm39)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,314,013 (GRCm39)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,919,546 (GRCm39)	D167G	probably damaging	Het
Gm5105	G	A	3: 137,755,319 (GRCm39)	T89I	unknown	Het
Grhl1	C	T	12: 24,625,996 (GRCm39)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,183,518 (GRCm39)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,029,661 (GRCm39)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,431,135 (GRCm39)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,275,985 (GRCm39)	Y51C	probably damaging	Het
Iqcj	T	A	3: 67,948,580 (GRCm39)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,366,178 (GRCm39)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,756,160 (GRCm39)	G129W	probably damaging	Het
Kcnq2	T	A	2: 180,723,517 (GRCm39)	R620*	probably null	Het
Klk13	C	A	7: 43,376,126 (GRCm39)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,012,488 (GRCm39)	M729L	probably benign	Het
Lyst	T	G	13: 13,918,044 (GRCm39)		probably null	Het
Med13l	G	A	5: 118,890,051 (GRCm39)	R1909H	probably damaging	Het
Mstn	T	A	1: 53,103,243 (GRCm39)	L193Q	possibly damaging	Het
Mylk	T	C	16: 34,820,796 (GRCm39)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,647,233 (GRCm39)	M547L	probably damaging	Het
Nckap5	A	G	1: 125,952,785 (GRCm39)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Oosp3	T	A	19: 11,676,783 (GRCm39)	D47E	probably benign	Het
Or14j8	A	T	17: 38,263,393 (GRCm39)	I174N	probably damaging	Het
Or5d37	T	A	2: 87,923,600 (GRCm39)	I227F	probably benign	Het
Or5h25	A	G	16: 58,930,970 (GRCm39)	M1T	probably null	Het
Or5p66	T	G	7: 107,885,551 (GRCm39)	I261L	probably benign	Het
Pcdh15	G	T	10: 74,302,186 (GRCm39)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,840,625 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,711,838 (GRCm39)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plscr1	T	A	9: 92,146,715 (GRCm39)	V119D	probably damaging	Het
Prss56	A	T	1: 87,113,670 (GRCm39)	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,214,884 (GRCm39)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,037,159 (GRCm39)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,829,690 (GRCm39)	L85P	probably damaging	Het
Rptn	T	C	3: 93,305,207 (GRCm39)	C847R	possibly damaging	Het
Six4	T	A	12: 73,155,727 (GRCm39)	E413D	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,212,143 (GRCm39)	V1115A	probably damaging	Het
Spen	T	C	4: 141,220,755 (GRCm39)	K401E	unknown	Het
Srbd1	T	A	17: 86,443,843 (GRCm39)	R128W	possibly damaging	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Thumpd2	G	T	17: 81,363,326 (GRCm39)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,576,429 (GRCm39)	V141I	probably damaging	Het
Tmprss15	T	C	16: 78,821,741 (GRCm39)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,333,914 (GRCm39)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,523,610 (GRCm39)	W90R	probably benign	Het
Utp25	A	G	1: 192,797,163 (GRCm39)	I563T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,272,536 (GRCm39)		probably null	Het
Zfp646	C	A	7: 127,481,494 (GRCm39)	Q1224K	probably benign	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
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
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'- GTAGATCCGAAGCCAAATGCC -3'
(R):5'- TGGCCTCTGTTAACATGACAGG -3'

Sequencing Primer
(F):5'- AATGCCTACCCGAGTAAACG -3'
(R):5'- ACATGACAGGTTTCTTTCTGAGATCC -3'

Posted On

2019-05-13