Mutagenetix > Incidental Mutations

Incidental Mutation 'R1350:Ssu2'

159527

Institutional Source

Beutler Lab

Gene Symbol

Ssu2

Ensembl Gene

ENSMUSG00000034387

Gene Name

ssu-2 homolog (C. elegans)

Synonyms

D630042P16Rik

MMRRC Submission

039415-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112359324-112388023 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 112374846 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 306 (L306*)

Ref Sequence

ENSEMBL: ENSMUSP00000052328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060847]

Predicted Effect

probably null
Transcript: ENSMUST00000060847
AA Change: L306*

SMART Domains

Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: L306*

Domain	Start	End	E-Value	Type
internal_repeat_1	177	194	6.13e-5	PROSPERO
internal_repeat_1	188	205	6.13e-5	PROSPERO
low complexity region	214	234	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143134

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

95% (57/60)

MGI Phenotype

PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	A	G	4: 126,507,132	V640A	probably benign	Het
AI661453	C	T	17: 47,467,928	Q860*	probably null	Het
Atp10d	A	G	5: 72,261,126		probably benign	Het
Axdnd1	A	G	1: 156,378,380		probably null	Het
Bivm	T	A	1: 44,126,703	N104K	possibly damaging	Het
Capn15	A	G	17: 25,964,692	S338P	probably benign	Het
Car9	G	T	4: 43,512,439		probably null	Het
Col13a1	G	A	10: 61,894,069		probably benign	Het
Crb2	A	G	2: 37,792,069	N821D	probably damaging	Het
D5Ertd579e	T	A	5: 36,613,737	I1105F	probably damaging	Het
Dnaja2	A	T	8: 85,540,088	F337I	probably damaging	Het
Dntt	C	T	19: 41,037,139		probably benign	Het
Dock3	C	T	9: 106,914,632	E1381K	possibly damaging	Het
Fam213b	C	A	4: 154,898,128	R107L	probably damaging	Het
Fibp	T	C	19: 5,461,391	Y96H	probably damaging	Het
Garnl3	A	G	2: 33,052,214	V85A	probably damaging	Het
Gsdme	A	T	6: 50,246,128		probably null	Het
Gucy2c	A	T	6: 136,743,914		probably null	Het
Hectd1	A	G	12: 51,762,434	V1748A	probably benign	Het
Hepacam2	G	A	6: 3,467,530	Q384*	probably null	Het
Itga10	T	A	3: 96,657,477	M961K	probably benign	Het
Kcnk1	C	T	8: 126,025,228	T191I	probably benign	Het
Khdrbs1	G	A	4: 129,720,752	P336L	probably benign	Het
Klhdc2	T	A	12: 69,305,710		probably null	Het
Lipc	T	C	9: 70,798,367	H478R	probably benign	Het
Lrp12	A	T	15: 39,878,250	C356*	probably null	Het
Nf1	T	A	11: 79,412,687	C397S	probably damaging	Het
Nox3	A	G	17: 3,650,121	F439S	probably damaging	Het
Olfr1121	T	A	2: 87,372,357	V275E	probably benign	Het
Olfr1271	A	T	2: 90,266,346	L28Q	probably damaging	Het
Olfr401	T	C	11: 74,122,213	L308P	possibly damaging	Het
Olfr46	T	C	7: 140,610,709	V181A	probably damaging	Het
Olfr64	A	G	7: 103,893,730	W2R	probably benign	Het
Olfr847	T	G	9: 19,375,414	S156R	possibly damaging	Het
Olfr884	G	A	9: 38,047,815	V198I	probably benign	Het
Pcif1	T	C	2: 164,886,767	F288L	probably damaging	Het
Skint7	G	T	4: 111,980,324	A100S	possibly damaging	Het
Tasp1	T	C	2: 140,057,421	E4G	probably damaging	Het
Tfb1m	A	T	17: 3,545,680	D99E	probably benign	Het
Ube3b	A	G	5: 114,406,137		probably null	Het
Uox	A	G	3: 146,624,575	D162G	probably damaging	Het
Usp18	A	G	6: 121,262,692	T249A	possibly damaging	Het
Vmn1r202	T	C	13: 22,501,716	N177S	probably benign	Het
Vwa2	T	A	19: 56,909,126	M621K	probably damaging	Het
Wdfy3	C	A	5: 101,898,552	D1797Y	probably damaging	Het
Wisp3	C	T	10: 39,158,306	C100Y	probably damaging	Het
Ylpm1	A	T	12: 85,014,082		probably benign	Het
Zbtb9	G	A	17: 26,974,406	V262I	probably benign	Het

Other mutations in Ssu2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Ssu2	APN	6	112374882	missense	probably damaging	1.00
IGL01752:Ssu2	APN	6	112375592	missense	probably damaging	1.00
IGL02820:Ssu2	APN	6	112382392	missense	probably benign	0.13
R0047:Ssu2	UTSW	6	112374820	missense	probably damaging	1.00
R0047:Ssu2	UTSW	6	112374820	missense	probably damaging	1.00
R0551:Ssu2	UTSW	6	112380554	missense	possibly damaging	0.86
R0931:Ssu2	UTSW	6	112384398	missense	probably damaging	1.00
R1512:Ssu2	UTSW	6	112387998	start codon destroyed	probably null	0.91
R1908:Ssu2	UTSW	6	112384427	missense	probably benign	0.00
R2013:Ssu2	UTSW	6	112383941	missense	possibly damaging	0.85
R2915:Ssu2	UTSW	6	112377605	nonsense	probably null
R4526:Ssu2	UTSW	6	112382422	missense	possibly damaging	0.73
R4782:Ssu2	UTSW	6	112376450	missense	probably damaging	1.00
R5099:Ssu2	UTSW	6	112359624	missense	probably benign	0.34
R5396:Ssu2	UTSW	6	112380996	missense	probably damaging	0.99
R6223:Ssu2	UTSW	6	112376448	nonsense	probably null
R6241:Ssu2	UTSW	6	112374820	missense	probably damaging	1.00
R6476:Ssu2	UTSW	6	112374832	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCCTTCAAGCCTCAAATGC -3'
(R):5'- TTTTGTCCCGGACTCTGAGCCAAC -3'

Sequencing Primer
(F):5'- AATGCTGGCCCTCAACTC -3'
(R):5'- TCTGAAGAGGTTTCCTCAGC -3'

Posted On

2014-03-14