Mutagenetix > Incidental Mutation

Incidental Mutation 'R6241:Ssu2'

505236

Institutional Source

Beutler Lab

Gene Symbol

Ssu2

Ensembl Gene

ENSMUSG00000034387

Gene Name

ssu-2 homolog

Synonyms

D630042P16Rik

MMRRC Submission

044402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112336285-112364984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112351781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 315 (H315Y)

Ref Sequence

ENSEMBL: ENSMUSP00000052328 (fasta)

Gene Model

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

AlphaFold

Q8C3L1

Predicted Effect

probably damaging
Transcript: ENSMUST00000060847
AA Change: H315Y

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

SMART Domains

Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: H315Y

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

0.4633

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,788 (GRCm39)	I385V	probably benign	Het
Ablim2	A	G	5: 36,032,241 (GRCm39)	D622G	probably damaging	Het
Acsbg1	A	T	9: 54,549,946 (GRCm39)	S86T	probably damaging	Het
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Ank2	A	C	3: 126,846,397 (GRCm39)	D199E	probably damaging	Het
Art2a	T	A	7: 101,204,452 (GRCm39)	M29L	probably benign	Het
Bbs2	C	A	8: 94,824,863 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,815,074 (GRCm39)	I1402N	probably damaging	Het
C1qtnf9	C	A	14: 61,017,069 (GRCm39)	P200T	possibly damaging	Het
Ciita	T	C	16: 10,329,767 (GRCm39)	Y684H	probably damaging	Het
Dennd1c	T	C	17: 57,373,272 (GRCm39)	N734D	probably benign	Het
Depdc1b	A	T	13: 108,460,653 (GRCm39)	I88F	possibly damaging	Het
Dsg2	A	G	18: 20,723,274 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,394,761 (GRCm39)	T154A	probably damaging	Het
Gmeb1	A	T	4: 131,969,688 (GRCm39)	V95D	possibly damaging	Het
Gmeb1	A	G	4: 131,973,324 (GRCm39)	S62P	probably benign	Het
Golga5	T	A	12: 102,438,732 (GRCm39)	V149D	probably damaging	Het
H1f7	A	C	15: 98,154,652 (GRCm39)	S166A	unknown	Het
Hivep1	T	C	13: 42,311,846 (GRCm39)	L1362P	probably benign	Het
Ift81	T	C	5: 122,740,414 (GRCm39)	M205V	probably benign	Het
Iglv3	T	A	16: 19,059,968 (GRCm39)	Q120L	possibly damaging	Het
Ints9	C	T	14: 65,217,659 (GRCm39)	T62I	possibly damaging	Het
Itga1	G	T	13: 115,096,673 (GRCm39)		probably null	Het
Katnip	C	T	7: 125,472,006 (GRCm39)	H1532Y	probably benign	Het
Krt77	A	C	15: 101,773,988 (GRCm39)	I222S	probably damaging	Het
Mrps25	A	G	6: 92,160,819 (GRCm39)		probably null	Het
Mrps27	A	G	13: 99,548,754 (GRCm39)	T297A	probably benign	Het
Mup15	A	T	4: 61,357,850 (GRCm39)	L7Q	unknown	Het
Naip1	T	A	13: 100,562,169 (GRCm39)	I999F	probably damaging	Het
Ndst1	A	G	18: 60,836,901 (GRCm39)	F387L	probably damaging	Het
Nudt9	T	C	5: 104,202,151 (GRCm39)	S71P	probably damaging	Het
Or14c41	C	A	7: 86,235,245 (GRCm39)	A254D	probably benign	Het
Or2b4	A	G	17: 38,116,432 (GRCm39)	Y132C	probably damaging	Het
Or5al1	T	G	2: 85,990,380 (GRCm39)	E111D	probably damaging	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pcolce	A	C	5: 137,603,496 (GRCm39)	S446A	probably benign	Het
Per2	T	A	1: 91,349,251 (GRCm39)	N1040I	probably damaging	Het
Pla2g6	A	T	15: 79,188,592 (GRCm39)	S422T	probably benign	Het
Pla2r1	G	T	2: 60,332,543 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,752,094 (GRCm39)	V100A	possibly damaging	Het
Polr1d	C	T	5: 147,015,533 (GRCm39)	T72M	probably benign	Het
Psd3	A	C	8: 68,270,791 (GRCm39)		probably benign	Het
Radil	T	C	5: 142,480,697 (GRCm39)	E586G	probably damaging	Het
Rnf150	A	G	8: 83,591,093 (GRCm39)	N152S	possibly damaging	Het
Serpina1b	T	A	12: 103,695,515 (GRCm39)		probably null	Het
Setd3	C	T	12: 108,124,114 (GRCm39)	E192K	probably benign	Het
Taok3	T	A	5: 117,410,262 (GRCm39)	M818K	probably benign	Het
Tmem131l	T	C	3: 83,829,471 (GRCm39)	N1062S	probably benign	Het
Tmx4	C	T	2: 134,481,425 (GRCm39)		probably benign	Het
Traip	G	A	9: 107,845,933 (GRCm39)	C342Y	probably benign	Het
Traj9	G	T	14: 54,446,890 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vegfc	T	C	8: 54,634,289 (GRCm39)	S323P	probably benign	Het
Vinac1	T	C	2: 128,879,301 (GRCm39)	D875G	possibly damaging	Het

Other mutations in Ssu2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Ssu2	APN	6	112,351,843 (GRCm39)	missense	probably damaging	1.00
IGL01752:Ssu2	APN	6	112,352,553 (GRCm39)	missense	probably damaging	1.00
IGL02820:Ssu2	APN	6	112,359,353 (GRCm39)	missense	probably benign	0.13
R0047:Ssu2	UTSW	6	112,351,781 (GRCm39)	missense	probably damaging	1.00
R0047:Ssu2	UTSW	6	112,351,781 (GRCm39)	missense	probably damaging	1.00
R0551:Ssu2	UTSW	6	112,357,515 (GRCm39)	missense	possibly damaging	0.86
R0931:Ssu2	UTSW	6	112,361,359 (GRCm39)	missense	probably damaging	1.00
R1350:Ssu2	UTSW	6	112,351,807 (GRCm39)	nonsense	probably null
R1512:Ssu2	UTSW	6	112,364,959 (GRCm39)	start codon destroyed	probably null	0.91
R1908:Ssu2	UTSW	6	112,361,388 (GRCm39)	missense	probably benign	0.00
R2013:Ssu2	UTSW	6	112,360,902 (GRCm39)	missense	possibly damaging	0.85
R2915:Ssu2	UTSW	6	112,354,566 (GRCm39)	nonsense	probably null
R4526:Ssu2	UTSW	6	112,359,383 (GRCm39)	missense	possibly damaging	0.73
R4782:Ssu2	UTSW	6	112,353,411 (GRCm39)	missense	probably damaging	1.00
R5099:Ssu2	UTSW	6	112,336,585 (GRCm39)	missense	probably benign	0.34
R5396:Ssu2	UTSW	6	112,357,957 (GRCm39)	missense	probably damaging	0.99
R6223:Ssu2	UTSW	6	112,353,409 (GRCm39)	nonsense	probably null
R6476:Ssu2	UTSW	6	112,351,793 (GRCm39)	missense	probably damaging	1.00
R8099:Ssu2	UTSW	6	112,353,438 (GRCm39)	missense	probably benign	0.34
R8440:Ssu2	UTSW	6	112,364,950 (GRCm39)	missense	probably benign	0.01
R8712:Ssu2	UTSW	6	112,361,399 (GRCm39)	missense	probably damaging	1.00
R8750:Ssu2	UTSW	6	112,359,312 (GRCm39)	missense	possibly damaging	0.93
R8872:Ssu2	UTSW	6	112,357,956 (GRCm39)	missense	probably damaging	0.99
R8972:Ssu2	UTSW	6	112,360,898 (GRCm39)	missense	probably benign
R9367:Ssu2	UTSW	6	112,357,975 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCTGTGCTTATCTCAAG -3'
(R):5'- AGGTTTCCTCAGCTTGCTATGC -3'

Sequencing Primer
(F):5'- AAGCCCTTGATCCCTGCAC -3'
(R):5'- CAGCTTGCTATGCGGCCTTG -3'

Posted On

2018-02-28