Mutagenetix > Incidental Mutation

Incidental Mutation 'R0315:Susd4'

25393

Institutional Source

Beutler Lab

Gene Symbol

Susd4

Ensembl Gene

ENSMUSG00000038576

Gene Name

sushi domain containing 4

Synonyms

E430021N18Rik

MMRRC Submission

038525-MU

Accession Numbers

Essential gene?

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

Stock #

R0315 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182591609-182724161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 182686077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 209 (R209H)

Ref Sequence

ENSEMBL: ENSMUSP00000119488 (fasta)

Gene Model

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

AlphaFold

Q8BH32

Predicted Effect

probably benign
Transcript: ENSMUST00000085724
AA Change: R209H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082873
Gene: ENSMUSG00000038576
AA Change: R209H

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
AA Change: R209H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119488
Gene: ENSMUSG00000038576
AA Change: R209H

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

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.9%
20x: 88.9%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,826,378 (GRCm39)	R409Q	possibly damaging	Het
Ank3	A	T	10: 69,838,347 (GRCm39)	Q825L	probably damaging	Het
Ap1g1	A	G	8: 110,545,667 (GRCm39)	I107V	probably benign	Het
Bub1b	A	T	2: 118,457,457 (GRCm39)		probably benign	Het
Cd86	C	T	16: 36,441,306 (GRCm39)	V54I	possibly damaging	Het
Dpys	T	G	15: 39,720,734 (GRCm39)	I9L	probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	G	T	3: 93,122,029 (GRCm39)	G1400C	unknown	Het
Gm28042	T	C	2: 119,869,538 (GRCm39)	L634P	probably damaging	Het
Gm6712	G	A	17: 17,536,380 (GRCm39)		noncoding transcript	Het
Gpbp1	T	G	13: 111,573,072 (GRCm39)	E360A	possibly damaging	Het
Hmgn1	A	C	16: 95,926,017 (GRCm39)	I52R	probably benign	Het
Ing2	A	C	8: 48,122,125 (GRCm39)	M141R	probably benign	Het
Klhl2	A	T	8: 65,196,053 (GRCm39)	Y563*	probably null	Het
Lrrc9	A	G	12: 72,502,802 (GRCm39)	T258A	probably damaging	Het
Map1b	A	T	13: 99,567,624 (GRCm39)	I1699N	unknown	Het
Map2k5	A	T	9: 63,210,433 (GRCm39)	H185Q	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Mroh1	C	T	15: 76,311,800 (GRCm39)	A511V	possibly damaging	Het
Nop53	T	C	7: 15,679,235 (GRCm39)	D90G	probably damaging	Het
Or10k2	T	C	8: 84,268,001 (GRCm39)	V76A	possibly damaging	Het
Or5b97	A	T	19: 12,878,598 (GRCm39)	V182D	possibly damaging	Het
Or5w20	A	T	2: 87,727,410 (GRCm39)	Y289F	probably damaging	Het
Or6c209	T	A	10: 129,483,366 (GRCm39)	I123N	probably damaging	Het
Pkd2	T	A	5: 104,607,716 (GRCm39)	S72T	possibly damaging	Het
Prc1	T	C	7: 79,963,284 (GRCm39)	S587P	probably damaging	Het
Rdh7	G	T	10: 127,724,265 (GRCm39)	T73K	possibly damaging	Het
Runx1	T	C	16: 92,402,655 (GRCm39)	N429S	probably damaging	Het
Skint7	G	A	4: 111,845,315 (GRCm39)	A376T	possibly damaging	Het
Slc16a14	T	C	1: 84,890,217 (GRCm39)	I363V	possibly damaging	Het
Smarcal1	C	T	1: 72,634,970 (GRCm39)	Q350*	probably null	Het
Soat1	T	A	1: 156,268,083 (GRCm39)	K275*	probably null	Het
Speg	T	C	1: 75,391,780 (GRCm39)	V1571A	possibly damaging	Het
Stat5b	G	C	11: 100,679,286 (GRCm39)	D605E	probably benign	Het
Tlr1	T	G	5: 65,084,271 (GRCm39)	D102A	probably damaging	Het
Tm4sf5	A	G	11: 70,401,462 (GRCm39)	N154D	probably damaging	Het
Tmigd3	T	A	3: 105,824,085 (GRCm39)	M18K	probably damaging	Het
Ube2h	A	T	6: 30,241,412 (GRCm39)	V86E	probably damaging	Het
Utp20	A	G	10: 88,643,283 (GRCm39)	L613P	probably damaging	Het
Vmn2r117	G	A	17: 23,679,139 (GRCm39)	S695L	probably benign	Het
Washc5	T	C	15: 59,213,825 (GRCm39)	D427G	probably damaging	Het
Zfp462	T	A	4: 55,079,314 (GRCm39)	F2403I	probably damaging	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
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
R9687:Susd4	UTSW	1	182,722,762 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGGGTTGTAAAAGCCCCTCAAG -3'
(R):5'- GCTTCAGCAAGCAAAAGTCCCTTC -3'

Sequencing Primer
(F):5'- gtaaaagcccctcaagtaatgc -3'
(R):5'- GGACGACCAGATAAGGTTGT -3'

Posted On

2013-04-16