Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Susd1'

557566

Institutional Source

Beutler Lab

Gene Symbol

Susd1

Ensembl Gene

ENSMUSG00000038578

Gene Name

sushi domain containing 1

Synonyms

Gm12528

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59314683-59438633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59329581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 669 (D669G)

Ref Sequence

ENSEMBL: ENSMUSP00000048201 (fasta)

Gene Model

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

AlphaFold

E9Q3H4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040166
AA Change: D669G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: D669G

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

possibly damaging
Transcript: ENSMUST00000107544
AA Change: D616G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: D616G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 110,074,142 (GRCm38)	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373 (GRCm38)	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946 (GRCm38)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615 (GRCm38)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053 (GRCm38)	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208 (GRCm38)	D70G	probably benign	Het
Castor2	C	A	5: 134,135,190 (GRCm38)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,352,877 (GRCm38)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278 (GRCm38)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399 (GRCm38)	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412 (GRCm38)	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341 (GRCm38)		probably null	Het
Ctf2	T	A	7: 127,719,304 (GRCm38)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395 (GRCm38)	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625 (GRCm38)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,806,788 (GRCm38)	R258L	unknown	Het
Dnah9	T	A	11: 65,855,372 (GRCm38)	K3972*	probably null	Het
Dnai4	G	A	4: 103,096,616 (GRCm38)	P129S	probably benign	Het
Dusp7	T	A	9: 106,368,915 (GRCm38)	S40T	unknown	Het
Emg1	T	C	6: 124,705,749 (GRCm38)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043 (GRCm38)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980 (GRCm38)	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861 (GRCm38)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408 (GRCm38)	G190R	probably damaging	Het
Gdf15	T	G	8: 70,631,342 (GRCm38)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010 (GRCm38)	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415 (GRCm38)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719 (GRCm38)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640 (GRCm38)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696 (GRCm38)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709 (GRCm38)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489 (GRCm38)	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785 (GRCm38)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454 (GRCm38)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467 (GRCm38)	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872 (GRCm38)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771 (GRCm38)	A131V	probably benign	Het
Neb	A	T	2: 52,271,592 (GRCm38)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720 (GRCm38)	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046 (GRCm38)	N8S	probably benign	Het
Opalin	T	A	19: 41,069,935 (GRCm38)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,890,649 (GRCm38)	H175Q	probably benign	Het
Pask	C	T	1: 93,310,905 (GRCm38)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663 (GRCm38)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214 (GRCm38)	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525 (GRCm38)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112 (GRCm38)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363 (GRCm38)	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627 (GRCm38)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090 (GRCm38)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500 (GRCm38)	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433 (GRCm38)	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441 (GRCm38)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732 (GRCm38)	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076 (GRCm38)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162 (GRCm38)	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547 (GRCm38)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383 (GRCm38)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245 (GRCm38)		probably benign	Het
Spats1	T	A	17: 45,449,169 (GRCm38)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603 (GRCm38)	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955 (GRCm38)	M11T	probably benign	Het
Svep1	A	G	4: 58,128,859 (GRCm38)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746 (GRCm38)	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920 (GRCm38)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536 (GRCm38)	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244 (GRCm38)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280 (GRCm38)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130 (GRCm38)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,244,083 (GRCm38)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441 (GRCm38)	L173P	probably benign	Het

Other mutations in Susd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Susd1	APN	4	59,365,817 (GRCm38)	missense	possibly damaging	0.85
IGL01705:Susd1	APN	4	59,332,931 (GRCm38)	splice site	probably benign
IGL01727:Susd1	APN	4	59,412,329 (GRCm38)	splice site	probably benign
IGL02015:Susd1	APN	4	59,315,745 (GRCm38)	missense	possibly damaging	0.86
IGL02102:Susd1	APN	4	59,369,636 (GRCm38)	missense	possibly damaging	0.70
IGL02351:Susd1	APN	4	59,427,985 (GRCm38)	nonsense	probably null
IGL02358:Susd1	APN	4	59,427,985 (GRCm38)	nonsense	probably null
IGL03210:Susd1	APN	4	59,333,035 (GRCm38)	critical splice acceptor site	probably null
IGL03258:Susd1	APN	4	59,379,655 (GRCm38)	missense	possibly damaging	0.73
R0612:Susd1	UTSW	4	59,390,561 (GRCm38)	splice site	probably benign
R0719:Susd1	UTSW	4	59,329,506 (GRCm38)	missense	possibly damaging	0.56
R0722:Susd1	UTSW	4	59,379,749 (GRCm38)	missense	possibly damaging	0.73
R1355:Susd1	UTSW	4	59,424,114 (GRCm38)	missense	possibly damaging	0.86
R1672:Susd1	UTSW	4	59,411,395 (GRCm38)	missense	probably damaging	0.98
R1677:Susd1	UTSW	4	59,424,089 (GRCm38)	missense	possibly damaging	0.85
R1921:Susd1	UTSW	4	59,412,191 (GRCm38)	missense	probably benign	0.03
R1933:Susd1	UTSW	4	59,351,695 (GRCm38)	missense	possibly damaging	0.72
R1998:Susd1	UTSW	4	59,349,925 (GRCm38)	missense	probably benign	0.03
R2202:Susd1	UTSW	4	59,349,843 (GRCm38)	missense	possibly damaging	0.96
R2203:Susd1	UTSW	4	59,349,843 (GRCm38)	missense	possibly damaging	0.96
R2204:Susd1	UTSW	4	59,349,843 (GRCm38)	missense	possibly damaging	0.96
R2329:Susd1	UTSW	4	59,379,715 (GRCm38)	missense	possibly damaging	0.85
R2510:Susd1	UTSW	4	59,349,855 (GRCm38)	missense	possibly damaging	0.86
R4512:Susd1	UTSW	4	59,329,491 (GRCm38)	missense	possibly damaging	0.96
R4732:Susd1	UTSW	4	59,428,029 (GRCm38)	missense	possibly damaging	0.53
R4733:Susd1	UTSW	4	59,428,029 (GRCm38)	missense	possibly damaging	0.53
R4969:Susd1	UTSW	4	59,351,679 (GRCm38)	missense	probably benign	0.04
R5121:Susd1	UTSW	4	59,379,657 (GRCm38)	missense	possibly damaging	0.73
R5548:Susd1	UTSW	4	59,369,577 (GRCm38)	missense	probably benign	0.05
R5747:Susd1	UTSW	4	59,424,108 (GRCm38)	missense	probably damaging	0.98
R5776:Susd1	UTSW	4	59,315,363 (GRCm38)	utr 3 prime	probably benign
R5875:Susd1	UTSW	4	59,412,203 (GRCm38)	missense	possibly damaging	0.71
R6056:Susd1	UTSW	4	59,379,687 (GRCm38)	missense	possibly damaging	0.53
R6081:Susd1	UTSW	4	59,411,359 (GRCm38)	missense	possibly damaging	0.86
R7018:Susd1	UTSW	4	59,390,627 (GRCm38)	missense	probably benign	0.44
R7122:Susd1	UTSW	4	59,411,318 (GRCm38)	nonsense	probably null
R7172:Susd1	UTSW	4	59,315,420 (GRCm38)	splice site	probably null
R7891:Susd1	UTSW	4	59,349,915 (GRCm38)	missense	possibly damaging	0.85
R8103:Susd1	UTSW	4	59,365,916 (GRCm38)	critical splice acceptor site	probably null
R8299:Susd1	UTSW	4	59,315,773 (GRCm38)	missense	probably benign	0.33
R8472:Susd1	UTSW	4	59,332,985 (GRCm38)	missense	possibly damaging	0.96
R8831:Susd1	UTSW	4	59,379,594 (GRCm38)	splice site	probably benign
R8903:Susd1	UTSW	4	59,390,576 (GRCm38)	missense	probably benign	0.02
R8981:Susd1	UTSW	4	59,380,883 (GRCm38)	missense	probably benign	0.07
R9002:Susd1	UTSW	4	59,324,882 (GRCm38)	missense	probably benign	0.00
R9091:Susd1	UTSW	4	59,412,226 (GRCm38)	missense	probably benign	0.44
R9270:Susd1	UTSW	4	59,412,226 (GRCm38)	missense	probably benign	0.44
R9296:Susd1	UTSW	4	59,427,865 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGGTCACCGTAAACATGGG -3'
(R):5'- TGTTCTTCACAAGGCCCCTG -3'

Sequencing Primer
(F):5'- GCAAGTACACTGTAGCTGTCTTCAG -3'
(R):5'- GCCCCTGCCAATCTCTCTG -3'

Posted On

2019-06-26