Mutagenetix > Incidental Mutation

Incidental Mutation 'R1704:Susd4'

189944

Institutional Source

Beutler Lab

Gene Symbol

Susd4

Ensembl Gene

ENSMUSG00000038576

Gene Name

sushi domain containing 4

Synonyms

E430021N18Rik

MMRRC Submission

039737-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R1704 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

182591609-182724161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 182681678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 173 (N173S)

Ref Sequence

ENSEMBL: ENSMUSP00000119488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085724] [ENSMUST00000153348] [ENSMUST00000155229]

AlphaFold

Q8BH32

Predicted Effect

probably damaging
Transcript: ENSMUST00000085724
AA Change: N173S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082873
Gene: ENSMUSG00000038576
AA Change: N173S

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 damaging
Transcript: ENSMUST00000153348
AA Change: N173S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119488
Gene: ENSMUSG00000038576
AA Change: N173S

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: ENSMUST00000155229

SMART Domains

Protein: ENSMUSP00000142330
Gene: ENSMUSG00000038576

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
CCP	57	117	2.2e-12	SMART
Blast:CCP	122	148	4e-11	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,146,164 (GRCm39)	H511Y	probably benign	Het
Aldh1l2	C	T	10: 83,344,524 (GRCm39)	A341T	probably benign	Het
Apon	T	C	10: 128,090,865 (GRCm39)	F181S	probably damaging	Het
Avpr1b	T	A	1: 131,537,242 (GRCm39)	L342Q	possibly damaging	Het
Cacna1c	A	T	6: 118,579,107 (GRCm39)	H1810Q	probably benign	Het
Camta1	T	C	4: 151,159,681 (GRCm39)	Y1593C	probably damaging	Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cep192	T	A	18: 67,989,327 (GRCm39)	S1825T	probably damaging	Het
Cntnap4	T	A	8: 113,484,155 (GRCm39)	W403R	probably damaging	Het
Crppa	A	G	12: 36,571,493 (GRCm39)	E279G	probably benign	Het
D630045J12Rik	G	A	6: 38,116,362 (GRCm39)	P1753S	probably benign	Het
Dsg4	T	C	18: 20,604,646 (GRCm39)	Y1038H	probably damaging	Het
Fat1	C	T	8: 45,478,613 (GRCm39)	T2553I	probably damaging	Het
Fem1c	A	T	18: 46,639,263 (GRCm39)	N246K	probably benign	Het
Frmd8	T	A	19: 5,919,510 (GRCm39)	Q179L	probably benign	Het
Gbp10	A	G	5: 105,372,217 (GRCm39)	F181S	probably damaging	Het
Hfe	T	C	13: 23,888,391 (GRCm39)	Y265C	probably damaging	Het
Kifap3	A	G	1: 163,656,765 (GRCm39)	N362D	possibly damaging	Het
Lima1	A	G	15: 99,717,617 (GRCm39)	F130L	probably benign	Het
Lipo3	A	T	19: 33,757,743 (GRCm39)	V242E	possibly damaging	Het
Nf1	T	A	11: 79,354,127 (GRCm39)		probably null	Het
Nos1ap	C	G	1: 170,165,781 (GRCm39)	E161Q	probably damaging	Het
Or1q1	A	T	2: 36,886,896 (GRCm39)	I25F	probably benign	Het
Or2t43	A	T	11: 58,457,580 (GRCm39)	M197K	probably damaging	Het
Pde4dip	C	T	3: 97,661,576 (GRCm39)	V611I	probably benign	Het
Pdk2	T	C	11: 94,919,376 (GRCm39)	I300V	possibly damaging	Het
Polr2b	A	G	5: 77,490,407 (GRCm39)	D849G	possibly damaging	Het
Polr3a	G	A	14: 24,534,188 (GRCm39)	Q106*	probably null	Het
Prr14l	G	T	5: 32,987,626 (GRCm39)	A623D	probably benign	Het
Rab43	A	C	6: 87,788,363 (GRCm39)		probably null	Het
Sart3	G	A	5: 113,884,068 (GRCm39)	T648M	probably benign	Het
Scn10a	T	C	9: 119,438,460 (GRCm39)	D1803G	probably damaging	Het
Sec11a	A	T	7: 80,584,848 (GRCm39)	S30T	possibly damaging	Het
Sez6l2	G	A	7: 126,557,513 (GRCm39)	G309E	probably damaging	Het
Snx14	A	C	9: 88,295,591 (GRCm39)	D191E	probably damaging	Het
Sox6	A	T	7: 115,076,183 (GRCm39)	N777K	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgfbrap1	G	T	1: 43,093,816 (GRCm39)	Q559K	probably benign	Het
Tmco1	T	C	1: 167,153,506 (GRCm39)	S129P	possibly damaging	Het
Tmprss11a	T	C	5: 86,576,561 (GRCm39)	T97A	probably benign	Het
Tnni3k	G	A	3: 154,533,145 (GRCm39)	A774V	probably benign	Het
Tshz3	T	C	7: 36,470,785 (GRCm39)	S925P	possibly damaging	Het
Ush2a	T	C	1: 188,553,993 (GRCm39)	V3494A	probably damaging	Het
Vmn2r9	T	C	5: 108,994,266 (GRCm39)	D461G	probably damaging	Het
Zan	A	T	5: 137,432,264 (GRCm39)	C2344*	probably null	Het
Zfp629	A	G	7: 127,210,036 (GRCm39)	I591T	probably benign	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Zmym1	A	T	4: 126,942,177 (GRCm39)	I737N	probably damaging	Het
Zranb3	T	C	1: 128,019,740 (GRCm39)	M1V	probably null	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
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
R9687:Susd4	UTSW	1	182,722,762 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTCCTTGTAAAGCCGTTAACC -3'
(R):5'- CGGACATACTGAAGCATCAGCTCC -3'

Sequencing Primer
(F):5'- TGCAAAAAGTCATGTTCGTCTC -3'
(R):5'- TATACCGTGCTGGGTCACC -3'

Posted On

2014-05-14