Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02225:Slain2'

285312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slain2

Ensembl Gene

ENSMUSG00000036087

Gene Name

SLAIN motif family, member 2

Synonyms

5033405K12Rik, 8030444K12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

IGL02225

Quality Score

Status

Chromosome

Chromosomal Location

73071705-73136184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73098733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 163 (V163E)

Ref Sequence

ENSEMBL: ENSMUSP00000116528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143829] [ENSMUST00000144843] [ENSMUST00000200785]

AlphaFold

Q8CI08

Predicted Effect

probably damaging
Transcript: ENSMUST00000143829
AA Change: V163E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115871
Gene: ENSMUSG00000036087
AA Change: V163E

Domain	Start	End	E-Value	Type
coiled coil region	4	41	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
low complexity region	97	106	N/A	INTRINSIC
Pfam:SLAIN	130	607	1.2e-166	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144843
AA Change: V163E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116528
Gene: ENSMUSG00000036087
AA Change: V163E

Domain	Start	End	E-Value	Type
coiled coil region	4	41	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
low complexity region	97	106	N/A	INTRINSIC
Pfam:SLAIN	130	581	4.3e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200785
AA Change: V22E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144204
Gene: ENSMUSG00000036087
AA Change: V22E

Domain	Start	End	E-Value	Type
Pfam:SLAIN	1	188	1.9e-77	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 43,906,165 (GRCm39)		probably null	Het
Adgrf4	C	A	17: 42,974,269 (GRCm39)		probably null	Het
Aqp9	A	T	9: 71,037,829 (GRCm39)		probably benign	Het
C1s1	A	G	6: 124,518,293 (GRCm39)	W8R	probably benign	Het
Cep43	T	G	17: 8,401,251 (GRCm39)	D257E	probably damaging	Het
Cfap43	A	G	19: 47,800,616 (GRCm39)	I345T	probably benign	Het
Cwh43	T	C	5: 73,578,910 (GRCm39)	Y306H	probably damaging	Het
Cyp4a32	A	T	4: 115,467,700 (GRCm39)	H228L	probably benign	Het
Ddx24	A	G	12: 103,383,630 (GRCm39)	L607P	probably damaging	Het
Dlg3	A	G	X: 99,850,794 (GRCm39)	K232R	probably benign	Het
Fig4	A	G	10: 41,132,448 (GRCm39)	S453P	probably benign	Het
Frem1	A	G	4: 82,858,743 (GRCm39)	L1556P	probably damaging	Het
Gjb2	T	C	14: 57,337,645 (GRCm39)	K188E	probably damaging	Het
Gp1bb	C	A	16: 18,439,650 (GRCm39)	W148L	possibly damaging	Het
Grip1	C	T	10: 119,885,358 (GRCm39)	T375M	probably damaging	Het
Hnf1b	T	C	11: 83,752,611 (GRCm39)	L82P	probably damaging	Het
Jakmip1	T	C	5: 37,262,200 (GRCm39)	V333A	probably damaging	Het
Magi1	G	T	6: 93,671,007 (GRCm39)	R1069S	probably damaging	Het
Myh15	A	T	16: 48,911,526 (GRCm39)	E319D	probably benign	Het
Myl4	A	G	11: 104,471,228 (GRCm39)	I42V	probably benign	Het
Obsl1	A	T	1: 75,480,442 (GRCm39)	V394E	probably damaging	Het
Or1e1c	T	A	11: 73,265,904 (GRCm39)	F110I	probably damaging	Het
Or52ab7	A	T	7: 102,978,373 (GRCm39)	I227F	probably damaging	Het
Or5w14	C	T	2: 87,541,743 (GRCm39)	C169Y	possibly damaging	Het
Pcnt	C	T	10: 76,225,308 (GRCm39)	R1732K	probably benign	Het
Pkd1l3	T	C	8: 110,365,310 (GRCm39)	Y1144H	probably damaging	Het
Pogz	A	G	3: 94,786,327 (GRCm39)	K972E	probably damaging	Het
Sccpdh	A	G	1: 179,507,264 (GRCm39)	T227A	probably benign	Het
Sec16b	A	G	1: 157,359,614 (GRCm39)		probably benign	Het
Snx1	G	A	9: 66,016,903 (GRCm39)	P56L	probably benign	Het
Snx14	G	A	9: 88,295,577 (GRCm39)	T196I	probably damaging	Het
Sspo	T	C	6: 48,461,268 (GRCm39)	F3570L	probably benign	Het
Tbrg4	C	A	11: 6,574,094 (GRCm39)	V43F	probably damaging	Het
Traf3ip3	A	G	1: 192,877,408 (GRCm39)	I176T	probably benign	Het
Trbv20	T	A	6: 41,165,241 (GRCm39)		probably benign	Het
Ubc	A	T	5: 125,463,197 (GRCm39)	V710D	probably benign	Het
Ugt2b35	T	C	5: 87,155,264 (GRCm39)		probably benign	Het
Zbed5	C	T	5: 129,930,974 (GRCm39)		probably null	Het
Zc3hav1	T	C	6: 38,317,276 (GRCm39)	Y108C	probably damaging	Het

Other mutations in Slain2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Slain2	APN	5	73,098,789 (GRCm39)	splice site	probably benign
IGL02177:Slain2	APN	5	73,072,008 (GRCm39)	missense	probably benign	0.00
R1630:Slain2	UTSW	5	73,133,347 (GRCm39)	missense	probably damaging	1.00
R1729:Slain2	UTSW	5	73,114,957 (GRCm39)	missense	probably damaging	1.00
R1784:Slain2	UTSW	5	73,114,957 (GRCm39)	missense	probably damaging	1.00
R1866:Slain2	UTSW	5	73,114,665 (GRCm39)	missense	probably damaging	1.00
R4743:Slain2	UTSW	5	73,114,927 (GRCm39)	nonsense	probably null
R4839:Slain2	UTSW	5	73,106,066 (GRCm39)	missense	probably damaging	1.00
R4853:Slain2	UTSW	5	73,105,941 (GRCm39)	missense	probably benign	0.01
R4914:Slain2	UTSW	5	73,115,609 (GRCm39)	missense	probably benign	0.26
R5859:Slain2	UTSW	5	73,105,888 (GRCm39)	intron	probably benign
R6631:Slain2	UTSW	5	73,114,748 (GRCm39)	missense	probably benign	0.01
R7251:Slain2	UTSW	5	73,131,891 (GRCm39)	missense	possibly damaging	0.75
R7327:Slain2	UTSW	5	73,132,002 (GRCm39)	missense	probably benign	0.00
R7528:Slain2	UTSW	5	73,072,143 (GRCm39)	nonsense	probably null
R7586:Slain2	UTSW	5	73,123,165 (GRCm39)	missense	probably benign
R7763:Slain2	UTSW	5	73,105,953 (GRCm39)	missense	probably damaging	1.00
R7973:Slain2	UTSW	5	73,112,779 (GRCm39)	nonsense	probably null
R8994:Slain2	UTSW	5	73,114,984 (GRCm39)	missense	probably damaging	1.00
R9765:Slain2	UTSW	5	73,114,969 (GRCm39)	nonsense	probably null

Posted On

2015-04-16