Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Spout1'

285744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spout1

Ensembl Gene

ENSMUSG00000039660

Gene Name

SPOUT domain containing methyltransferase 1

Synonyms

D2Wsu81e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

30063465-30068471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30065266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 284 (Y284N)

Ref Sequence

ENSEMBL: ENSMUSP00000097793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015481] [ENSMUST00000100220]

AlphaFold

Q3UHX9

Predicted Effect

probably benign
Transcript: ENSMUST00000015481

SMART Domains

Protein: ENSMUSP00000015481
Gene: ENSMUSG00000015337

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	30	62	N/A	INTRINSIC
Endonuclease_NS	74	282	3.07e-79	SMART
NUC	75	282	3.37e-107	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100220
AA Change: Y284N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097793
Gene: ENSMUSG00000039660
AA Change: Y284N

Domain	Start	End	E-Value	Type
coiled coil region	36	72	N/A	INTRINSIC
Pfam:Methyltrn_RNA_3	75	365	2.5e-114	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144093

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before implantation. Heterozygotes show reduced spontaneous apoptosis of differentiating spermatogonia as well as reduced apoptosis and nuclear DNA fragmentation in splenocytes, thymocytes and MEFs in response to apoptotic stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,530,764 (GRCm39)	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996 (GRCm39)	M210T	probably damaging	Het
Actr10	G	A	12: 70,990,289 (GRCm39)	E114K	probably benign	Het
Adam6b	T	C	12: 113,454,764 (GRCm39)	M527T	probably benign	Het
Ahi1	C	T	10: 20,857,274 (GRCm39)	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,271,545 (GRCm39)	W424R	probably damaging	Het
Apeh	A	T	9: 107,969,071 (GRCm39)	S299T	probably benign	Het
Bbs5	A	C	2: 69,485,895 (GRCm39)	I147L	probably benign	Het
Bmp2k	T	G	5: 97,179,109 (GRCm39)		probably benign	Het
C2cd6	A	G	1: 59,101,651 (GRCm39)	F336S	probably damaging	Het
Cd274	T	A	19: 29,359,938 (GRCm39)	L248M	probably damaging	Het
Chsy3	T	A	18: 59,542,383 (GRCm39)	M507K	possibly damaging	Het
Clip2	T	C	5: 134,531,984 (GRCm39)	N572S	probably damaging	Het
Commd9	A	G	2: 101,731,324 (GRCm39)	T170A	probably benign	Het
Cpt1c	G	A	7: 44,609,580 (GRCm39)	S674L	probably damaging	Het
Dhx33	C	A	11: 70,878,030 (GRCm39)	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,386 (GRCm39)	E1583K	probably damaging	Het
Eed	G	T	7: 89,621,493 (GRCm39)	N51K	probably damaging	Het
Efcab14	A	G	4: 115,617,261 (GRCm39)		probably benign	Het
Ephb2	A	C	4: 136,384,762 (GRCm39)	M884R	probably damaging	Het
Foxn2	G	T	17: 88,770,479 (GRCm39)	A109S	probably benign	Het
Fut1	A	T	7: 45,268,871 (GRCm39)	D220V	probably damaging	Het
Gm6468	C	T	5: 95,429,066 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,515 (GRCm39)		noncoding transcript	Het
Gm9772	C	T	17: 22,226,031 (GRCm39)		probably benign	Het
Golph3	G	T	15: 12,349,578 (GRCm39)	M199I	probably benign	Het
Itpr1	A	G	6: 108,394,884 (GRCm39)	N1666D	probably damaging	Het
Itprid1	A	G	6: 55,944,922 (GRCm39)	T548A	unknown	Het
Kif12	C	T	4: 63,084,732 (GRCm39)	E529K	probably benign	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,293,949 (GRCm39)	N112I	probably damaging	Het
Msi1	T	A	5: 115,579,506 (GRCm39)		probably null	Het
Nasp	T	G	4: 116,461,997 (GRCm39)	E170A	probably damaging	Het
Necab2	T	A	8: 120,189,391 (GRCm39)	V187E	probably damaging	Het
Obscn	T	C	11: 58,929,804 (GRCm39)	E5790G	probably damaging	Het
Or7e176	A	T	9: 20,171,511 (GRCm39)	D125V	probably damaging	Het
Or9a7	A	G	6: 40,520,980 (GRCm39)	L311P	probably damaging	Het
Pard3b	C	T	1: 62,205,541 (GRCm39)	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,335,377 (GRCm39)	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,653,602 (GRCm39)	L690Q	probably damaging	Het
Pemt	T	A	11: 59,867,680 (GRCm39)	T115S	probably damaging	Het
Plcl2	A	G	17: 50,913,669 (GRCm39)	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,636,341 (GRCm39)	S750P	probably damaging	Het
Prtg	T	C	9: 72,758,771 (GRCm39)	V375A	probably damaging	Het
Psd3	A	C	8: 68,356,797 (GRCm39)	M673R	probably damaging	Het
Ptprt	T	C	2: 161,372,437 (GRCm39)	I1392V	probably damaging	Het
Rlf	G	A	4: 121,039,811 (GRCm39)	T200I	probably benign	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,309,988 (GRCm39)	D87G	possibly damaging	Het
Sema3g	T	C	14: 30,943,181 (GRCm39)	V148A	probably damaging	Het
Sgms2	G	A	3: 131,116,833 (GRCm39)	P341S	probably benign	Het
Skint7	A	T	4: 111,839,225 (GRCm39)	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,594,013 (GRCm39)	A150V	probably benign	Het
Slc35c2	A	G	2: 165,124,801 (GRCm39)	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,923,206 (GRCm39)	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,823,248 (GRCm39)	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,710 (GRCm39)	T601I	probably benign	Het
Spink8	A	T	9: 109,649,665 (GRCm39)	Q49L	possibly damaging	Het
Srrm1	A	T	4: 135,080,427 (GRCm39)	M1K	probably null	Het
Stxbp5l	A	G	16: 37,150,257 (GRCm39)	L116P	probably damaging	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,577,960 (GRCm39)	V108A	probably damaging	Het
Tra2b	A	G	16: 22,067,790 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,902,647 (GRCm39)	H271Q	probably benign	Het
Ttn	A	G	2: 76,723,263 (GRCm39)		probably benign	Het
Usp51	A	T	X: 151,791,669 (GRCm39)	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,244,810 (GRCm39)	W355R	probably damaging	Het
Vpreb1a	T	C	16: 16,686,603 (GRCm39)	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zp3r	C	A	1: 130,524,404 (GRCm39)	C213F	probably damaging	Het

Other mutations in Spout1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02072:Spout1	APN	2	30,067,938 (GRCm39)	nonsense	probably null
IGL03141:Spout1	APN	2	30,065,067 (GRCm39)	missense	probably damaging	1.00
R0496:Spout1	UTSW	2	30,064,983 (GRCm39)	missense	probably benign	0.00
R3847:Spout1	UTSW	2	30,067,419 (GRCm39)	splice site	probably null
R3944:Spout1	UTSW	2	30,064,148 (GRCm39)	missense	probably benign
R4162:Spout1	UTSW	2	30,067,589 (GRCm39)	intron	probably benign
R4163:Spout1	UTSW	2	30,067,589 (GRCm39)	intron	probably benign
R4164:Spout1	UTSW	2	30,067,589 (GRCm39)	intron	probably benign
R7922:Spout1	UTSW	2	30,066,823 (GRCm39)	missense	probably benign	0.01
R9719:Spout1	UTSW	2	30,065,813 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16