Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Susd4'

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Institutional Source

Beutler Lab

Gene Symbol

Susd4

Ensembl Gene

ENSMUSG00000038576

Gene Name

sushi domain containing 4

Synonyms

E430021N18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

182591609-182724161 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 182722762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085724] [ENSMUST00000153348]

AlphaFold

Q8BH32

Predicted Effect

probably null
Transcript: ENSMUST00000085724

SMART Domains

Protein: ENSMUSP00000082873
Gene: ENSMUSG00000038576

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
CCP	57	117	4.59e-10	SMART
CCP	122	177	2.58e-4	SMART
CCP	180	237	1.06e-14	SMART
CCP	243	302	1.3e-9	SMART
transmembrane domain	317	339	N/A	INTRINSIC
low complexity region	351	374	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153348

SMART Domains

Protein: ENSMUSP00000119488
Gene: ENSMUSG00000038576

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
CCP	57	117	4.59e-10	SMART
CCP	122	177	2.58e-4	SMART
CCP	180	237	1.06e-14	SMART
CCP	243	302	1.3e-9	SMART
transmembrane domain	317	339	N/A	INTRINSIC
low complexity region	351	374	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,249 (GRCm39)	L446P	probably damaging	Het
Abcc9	T	C	6: 142,578,889 (GRCm39)	T927A	probably benign	Het
Abraxas2	A	G	7: 132,482,577 (GRCm39)	T258A	probably benign	Het
Akna	A	T	4: 63,292,674 (GRCm39)	C1078*	probably null	Het
Arhgap24	T	A	5: 102,994,022 (GRCm39)	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,041 (GRCm39)	T61I	probably benign	Het
Crebrf	A	G	17: 26,982,601 (GRCm39)	*654W	probably null	Het
Dchs1	C	A	7: 105,407,191 (GRCm39)	R2134L	probably damaging	Het
Dcps	T	C	9: 35,035,978 (GRCm39)	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,848,190 (GRCm39)	E527K	probably damaging	Het
Dnah14	T	A	1: 181,425,978 (GRCm39)	M174K	probably benign	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Entrep1	A	G	19: 23,957,029 (GRCm39)	I327T	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etv1	T	C	12: 38,911,361 (GRCm39)	Y396H	probably damaging	Het
Fbxo11	A	G	17: 88,316,494 (GRCm39)	I293T		Het
Gcfc2	T	A	6: 81,918,323 (GRCm39)	S338T	probably damaging	Het
Gm10272	T	C	10: 77,542,764 (GRCm39)	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gna14	G	A	19: 16,582,350 (GRCm39)	R206Q		Het
Gpm6a	T	C	8: 55,503,209 (GRCm39)	Y153H	possibly damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 37,125,147 (GRCm39)	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,318,005 (GRCm39)	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546 (GRCm39)	L138P	probably damaging	Het
Kif26a	A	G	12: 112,143,625 (GRCm39)	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,402,562 (GRCm39)	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncor1	A	T	11: 62,260,193 (GRCm39)	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,479,670 (GRCm39)	V575A	probably damaging	Het
Or2y15	T	C	11: 49,350,518 (GRCm39)	F4S	probably benign	Het
Or5m8	G	T	2: 85,822,220 (GRCm39)	V20L	probably benign	Het
Or7a35	T	A	10: 78,853,843 (GRCm39)	I229N	probably damaging	Het
Osbpl5	A	G	7: 143,247,598 (GRCm39)	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,711,036 (GRCm39)	D93V	probably damaging	Het
Ppef2	T	A	5: 92,386,746 (GRCm39)	D397V	probably benign	Het
Ppfia4	G	A	1: 134,245,694 (GRCm39)	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978 (GRCm39)	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567 (GRCm38)	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622 (GRCm39)	N104K	probably benign	Het
Sars1	A	G	3: 108,343,221 (GRCm39)	L90P	probably benign	Het
Scaf8	T	A	17: 3,221,410 (GRCm39)	I299N	unknown	Het
Sh3bp2	C	T	5: 34,716,977 (GRCm39)	P463S	probably benign	Het
Slc12a3	A	G	8: 95,075,208 (GRCm39)	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,938,796 (GRCm39)	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,545,960 (GRCm39)	Y35C	possibly damaging	Het
Spmip2	G	A	3: 79,337,299 (GRCm39)	D36N	possibly damaging	Het
Taar7f	G	A	10: 23,925,727 (GRCm39)	R107K	probably benign	Het
Tarm1	T	C	7: 3,544,457 (GRCm39)	T237A	probably benign	Het
Tshr	C	A	12: 91,504,439 (GRCm39)	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,475,327 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,174,920 (GRCm39)	V1916A	unknown	Het
Unc45b	A	G	11: 82,810,562 (GRCm39)	D274G	probably damaging	Het
Vmn1r230	T	A	17: 21,067,604 (GRCm39)	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,775,332 (GRCm39)	Q132K		Het
Zbtb20	A	G	16: 43,430,160 (GRCm39)	S151G	possibly damaging	Het
Zbtb22	A	C	17: 34,136,850 (GRCm39)	T332P	probably damaging	Het
Zc3h6	A	G	2: 128,859,281 (GRCm39)	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,690,471 (GRCm39)	V263A	probably benign	Het
Zhx3	A	C	2: 160,623,678 (GRCm39)	V163G	probably benign	Het

Other mutations in Susd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Susd4	APN	1	182,719,552 (GRCm39)	missense	probably damaging	1.00
IGL01618:Susd4	APN	1	182,686,026 (GRCm39)	splice site	probably null
IGL02505:Susd4	APN	1	182,719,645 (GRCm39)	missense	probably benign	0.09
R0315:Susd4	UTSW	1	182,686,077 (GRCm39)	missense	probably benign
R1668:Susd4	UTSW	1	182,686,128 (GRCm39)	missense	probably benign	0.11
R1704:Susd4	UTSW	1	182,681,678 (GRCm39)	missense	probably damaging	1.00
R1730:Susd4	UTSW	1	182,681,543 (GRCm39)	missense	probably damaging	1.00
R2171:Susd4	UTSW	1	182,719,759 (GRCm39)	missense	probably benign
R3912:Susd4	UTSW	1	182,715,031 (GRCm39)	missense	probably damaging	1.00
R4601:Susd4	UTSW	1	182,686,025 (GRCm39)	missense	probably damaging	1.00
R4701:Susd4	UTSW	1	182,719,626 (GRCm39)	missense	probably damaging	0.99
R5256:Susd4	UTSW	1	182,719,824 (GRCm39)	missense	possibly damaging	0.95
R5279:Susd4	UTSW	1	182,715,043 (GRCm39)	missense	probably damaging	1.00
R5598:Susd4	UTSW	1	182,719,635 (GRCm39)	missense	probably benign	0.00
R6715:Susd4	UTSW	1	182,719,602 (GRCm39)	missense	probably benign	0.19
R7023:Susd4	UTSW	1	182,592,613 (GRCm39)	missense	probably damaging	0.99
R7056:Susd4	UTSW	1	182,660,721 (GRCm39)	missense	probably benign	0.31
R7788:Susd4	UTSW	1	182,722,767 (GRCm39)	missense	possibly damaging	0.94
R7832:Susd4	UTSW	1	182,686,070 (GRCm39)	missense	probably benign	0.03
R8075:Susd4	UTSW	1	182,592,748 (GRCm39)	missense	possibly damaging	0.80
R8683:Susd4	UTSW	1	182,719,832 (GRCm39)	critical splice donor site	probably null
R9039:Susd4	UTSW	1	182,681,597 (GRCm39)	missense	probably benign
R9267:Susd4	UTSW	1	182,716,389 (GRCm39)	missense	probably benign	0.03
R9437:Susd4	UTSW	1	182,681,697 (GRCm39)	critical splice donor site	probably null
R9474:Susd4	UTSW	1	182,719,665 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTAGCGGATAGATGGTGTACAG -3'
(R):5'- ATTTGAAAGCACCGCCTTTGC -3'

Sequencing Primer
(F):5'- TAGATGGTGTACAGGGCGG -3'
(R):5'- TTGCTGTTGGCCAGACC -3'

Posted On

2022-10-06