Mutagenetix > Incidental Mutation

Incidental Mutation 'R8994:Slain2'

684586

Institutional Source

Beutler Lab

Gene Symbol

Slain2

Ensembl Gene

ENSMUSG00000036087

Gene Name

SLAIN motif family, member 2

Synonyms

5033405K12Rik, 8030444K12Rik

MMRRC Submission

068825-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R8994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73071705-73136184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73114984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 405 (V405D)

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: V405D

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

SMART Domains

Protein: ENSMUSP00000115871
Gene: ENSMUSG00000036087
AA Change: V405D

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: V405D

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

SMART Domains

Protein: ENSMUSP00000116528
Gene: ENSMUSG00000036087
AA Change: V405D

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

probably benign
Transcript: ENSMUST00000200785

SMART Domains

Protein: ENSMUSP00000144204
Gene: ENSMUSG00000036087

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,771,556 (GRCm39)		probably null	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,723,471 (GRCm39)	M952K	probably benign	Het
Ccser2	A	T	14: 36,662,076 (GRCm39)	N369K	probably benign	Het
Cd300e	A	T	11: 114,946,348 (GRCm39)	Y38N	probably damaging	Het
Crat	G	T	2: 30,297,887 (GRCm39)	F212L	probably damaging	Het
Dnah8	T	A	17: 31,009,807 (GRCm39)	S3733T	probably benign	Het
Fam135a	C	T	1: 24,067,621 (GRCm39)	D1083N	probably damaging	Het
Fam174a	C	A	1: 95,241,689 (GRCm39)	P50T	possibly damaging	Het
Fars2	T	A	13: 36,388,849 (GRCm39)	Y113N	probably damaging	Het
Fpr3	T	C	17: 18,191,341 (GRCm39)	I204T	possibly damaging	Het
Frmd3	T	C	4: 74,088,985 (GRCm39)	V394A	probably benign	Het
Garin5a	G	T	7: 44,146,342 (GRCm39)	R16L	probably benign	Het
Gpbp1	C	A	13: 111,603,384 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,441,629 (GRCm39)	F1197Y	probably benign	Het
Herc3	A	G	6: 58,851,328 (GRCm39)	T526A	probably benign	Het
Hnrnpul2	T	C	19: 8,802,350 (GRCm39)	C406R	probably damaging	Het
Hsd17b3	T	C	13: 64,210,695 (GRCm39)	Q220R	probably damaging	Het
Igf2r	T	A	17: 12,935,537 (GRCm39)	Y651F	possibly damaging	Het
Kcng1	C	T	2: 168,110,768 (GRCm39)	R132Q	probably benign	Het
Kif1a	G	A	1: 92,983,457 (GRCm39)	S680F	possibly damaging	Het
Kif1b	T	C	4: 149,279,939 (GRCm39)	D27G		Het
Klk12	A	T	7: 43,421,485 (GRCm39)	T180S	probably damaging	Het
Klk1b27	A	G	7: 43,705,136 (GRCm39)	H101R	probably damaging	Het
Lrp6	C	A	6: 134,518,656 (GRCm39)	E136D	probably benign	Het
Mcm9	T	C	10: 53,424,620 (GRCm39)	I657V	probably benign	Het
Med13l	A	C	5: 118,866,226 (GRCm39)	K427Q	possibly damaging	Het
Nol10	A	T	12: 17,402,717 (GRCm39)	D63V	probably damaging	Het
Nudcd2	A	G	11: 40,624,862 (GRCm39)	T24A	probably damaging	Het
Nup155	T	C	15: 8,172,645 (GRCm39)		probably null	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or10p1	A	T	10: 129,444,005 (GRCm39)	L115H	probably damaging	Het
Or51af1	A	T	7: 103,141,800 (GRCm39)	M95K	probably benign	Het
Or5p81	G	A	7: 108,267,169 (GRCm39)	C182Y	probably damaging	Het
Or8c19-ps1	A	T	9: 38,220,581 (GRCm39)	*163Y	probably null	Het
Piezo1	T	C	8: 123,209,829 (GRCm39)	D2314G	unknown	Het
Pkhd1l1	T	C	15: 44,410,499 (GRCm39)	F2669L	probably damaging	Het
Plpp4	A	G	7: 128,981,157 (GRCm39)	R178G	probably damaging	Het
Ppp1r13l	G	T	7: 19,102,695 (GRCm39)	A37S	possibly damaging	Het
Prl6a1	A	G	13: 27,499,417 (GRCm39)	T62A	probably benign	Het
Ranbp2	C	A	10: 58,315,891 (GRCm39)	Q2204K	possibly damaging	Het
Rbm48	T	A	5: 3,640,795 (GRCm39)	M195L	probably benign	Het
Rigi	C	A	4: 40,205,941 (GRCm39)	E884*	probably null	Het
Shank3	T	A	15: 89,417,416 (GRCm39)	F4L	probably benign	Het
Slitrk5	A	C	14: 111,918,227 (GRCm39)	D617A	probably benign	Het
Sp140	T	A	1: 85,549,603 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,443,542 (GRCm39)	T240A	probably benign	Het
Timm21	T	C	18: 84,969,489 (GRCm39)		probably benign	Het
Tmem131	T	C	1: 36,854,538 (GRCm39)	S904G	probably benign	Het
Tmem86b	A	G	7: 4,632,706 (GRCm39)	C53R	unknown	Het
Wdr33	T	C	18: 31,960,459 (GRCm39)	L41P	probably benign	Het
Zfp112	A	C	7: 23,825,490 (GRCm39)	H490P	probably benign	Het
Zfp455	T	C	13: 67,355,478 (GRCm39)	Y184H	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
IGL02225:Slain2	APN	5	73,098,733 (GRCm39)	missense	probably damaging	0.99
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
R9765:Slain2	UTSW	5	73,114,969 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTACACCCTGCCCTTAATAGG -3'
(R):5'- GGCTTGAGAATCACATCAGTAGC -3'

Sequencing Primer
(F):5'- AATAGGTTTTCTCCATCCCCACGG -3'
(R):5'- TCACATCAGTAGCTGAGAGATAAC -3'

Posted On

2021-10-11