Mutagenetix > Incidental Mutation

Incidental Mutation 'R0989:Ssna1'

97457

Institutional Source

Beutler Lab

Gene Symbol

Ssna1

Ensembl Gene

ENSMUSG00000026966

Gene Name

SS nuclear autoantigen 1

Synonyms

1190004J23Rik, N14, 1110003H09Rik, NA14

MMRRC Submission

039109-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25161051-25162430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25161575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000028342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028341] [ENSMUST00000028342] [ENSMUST00000114336] [ENSMUST00000129300]

AlphaFold

Q9JJ94

Predicted Effect

probably benign
Transcript: ENSMUST00000028341

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	123	133	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
low complexity region	456	467	N/A	INTRINSIC
CULLIN	515	663	6.72e-9	SMART
APC2	772	832	3.67e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028342
AA Change: T91A

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028342
Gene: ENSMUSG00000026966
AA Change: T91A

Domain	Start	End	E-Value	Type
coiled coil region	13	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114336

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	8	89	8.3e-38	PFAM
low complexity region	105	117	N/A	INTRINSIC
internal_repeat_1	149	273	1.71e-5	PROSPERO
low complexity region	290	322	N/A	INTRINSIC
low complexity region	401	410	N/A	INTRINSIC
Pfam:Phostensin	506	645	1.8e-65	PFAM
low complexity region	647	665	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129265

Predicted Effect

probably benign
Transcript: ENSMUST00000129300

SMART Domains

Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965

Domain	Start	End	E-Value	Type
low complexity region	170	181	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141470

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,030,273 (GRCm39)	D140G	probably damaging	Het
Atp7b	A	G	8: 22,518,710 (GRCm39)	S43P	possibly damaging	Het
C4bp	G	A	1: 130,570,790 (GRCm39)	T262I	probably benign	Het
Cdh23	A	G	10: 60,370,289 (GRCm39)	Y169H	probably damaging	Het
Celsr1	T	C	15: 85,915,480 (GRCm39)	E831G	probably benign	Het
Celsr2	A	C	3: 108,310,588 (GRCm39)	M1498R	probably benign	Het
Crim1	T	C	17: 78,508,373 (GRCm39)	V59A	probably benign	Het
Dnah10	A	G	5: 124,875,002 (GRCm39)	I2560V	probably benign	Het
Enpp2	A	T	15: 54,739,155 (GRCm39)	M376K	possibly damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fbxw11	T	C	11: 32,685,149 (GRCm39)	V328A	probably benign	Het
Gm4846	G	A	1: 166,314,689 (GRCm39)	S318L	possibly damaging	Het
Golm1	A	T	13: 59,787,997 (GRCm39)	Y301N	probably benign	Het
Ipo8	T	C	6: 148,698,180 (GRCm39)	T614A	probably benign	Het
Klhl33	T	A	14: 51,129,279 (GRCm39)	Y390F	probably damaging	Het
Minar1	T	A	9: 89,484,088 (GRCm39)	K436N	probably damaging	Het
Mlh3	A	G	12: 85,316,169 (GRCm39)	S6P	probably benign	Het
Neurod2	A	G	11: 98,218,805 (GRCm39)	S120P	probably damaging	Het
Nfkb1	A	G	3: 135,295,157 (GRCm39)	S896P	probably benign	Het
Nr3c2	T	C	8: 77,914,193 (GRCm39)	Y687H	probably damaging	Het
Or13a24	A	C	7: 140,154,200 (GRCm39)	I45L	probably damaging	Het
Or52k2	G	A	7: 102,253,690 (GRCm39)	G43D	probably damaging	Het
Parp3	C	T	9: 106,350,281 (GRCm39)		probably null	Het
Pcolce2	T	A	9: 95,520,776 (GRCm39)	M51K	probably benign	Het
Pnoc	T	C	14: 65,642,317 (GRCm39)	K149E	probably damaging	Het
Polr1b	T	G	2: 128,967,997 (GRCm39)	V1130G	probably damaging	Het
Prcp	A	T	7: 92,559,424 (GRCm39)	I163F	probably benign	Het
Sez6l2	A	G	7: 126,559,016 (GRCm39)	D361G	probably damaging	Het
Slc4a9	T	A	18: 36,669,920 (GRCm39)	L785*	probably null	Het
St18	A	G	1: 6,898,105 (GRCm39)	T636A	probably benign	Het
Tln2	C	T	9: 67,136,736 (GRCm39)	A1250T	probably damaging	Het
Tnk2	A	G	16: 32,499,176 (GRCm39)	M815V	probably damaging	Het
Tspan31	T	A	10: 126,904,196 (GRCm39)	H167L	probably damaging	Het
Tspoap1	T	A	11: 87,656,649 (GRCm39)	C287S	probably damaging	Het
Unc80	T	C	1: 66,685,599 (GRCm39)	F2241S	possibly damaging	Het

Other mutations in Ssna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03349:Ssna1	APN	2	25,161,542 (GRCm39)	missense	possibly damaging	0.75
R1695:Ssna1	UTSW	2	25,162,024 (GRCm39)	missense	possibly damaging	0.89
R2231:Ssna1	UTSW	2	25,162,019 (GRCm39)	missense	possibly damaging	0.93
R9546:Ssna1	UTSW	2	25,162,316 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGGGAACACCTCTTCCATTGGAC -3'
(R):5'- TGAATTAACCCAGCCTGGCTTTGC -3'

Sequencing Primer
(F):5'- TGGAGGTCAGAAATTGCCCC -3'
(R):5'- TTTGCAGGGTGGAAGAGC -3'

Posted On

2014-01-05