Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:1700037C18Rik'

287316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700037C18Rik

Ensembl Gene

ENSMUSG00000005983

Gene Name

RIKEN cDNA 1700037C18 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

3723662-3726553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3724146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 130 (D130V)

Ref Sequence

ENSEMBL: ENSMUSP00000135766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006138] [ENSMUST00000006139] [ENSMUST00000040881] [ENSMUST00000115859] [ENSMUST00000115860] [ENSMUST00000123235] [ENSMUST00000124849] [ENSMUST00000177323] [ENSMUST00000177221] [ENSMUST00000176233] [ENSMUST00000150655] [ENSMUST00000175809] [ENSMUST00000139294] [ENSMUST00000176224] [ENSMUST00000145150] [ENSMUST00000176625] [ENSMUST00000186375] [ENSMUST00000143537]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006138

SMART Domains

Protein: ENSMUSP00000006138
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	50	157	4.2e-11	PFAM
Pfam:Acetyltransf_1	57	156	4.2e-15	PFAM
Pfam:FR47	77	164	8.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000006139

SMART Domains

Protein: ENSMUSP00000006139
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	16	139	7.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040881

SMART Domains

Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232

Domain	Start	End	E-Value	Type
Pfam:Cluap1	14	283	2.5e-121	PFAM
low complexity region	297	307	N/A	INTRINSIC
low complexity region	310	330	N/A	INTRINSIC
low complexity region	360	388	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115859
AA Change: D126V

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

SMART Domains

Protein: ENSMUSP00000111525
Gene: ENSMUSG00000005983
AA Change: D126V

Domain	Start	End	E-Value	Type
Pfam:DUF4644	2	162	4.7e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115860

SMART Domains

Protein: ENSMUSP00000111526
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	50	157	4.2e-11	PFAM
Pfam:Acetyltransf_1	57	156	4.2e-15	PFAM
Pfam:FR47	77	164	8.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123235

SMART Domains

Protein: ENSMUSP00000135233
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	7	67	1.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124849

SMART Domains

Protein: ENSMUSP00000119490
Gene: ENSMUSG00000014232

Domain	Start	End	E-Value	Type
Pfam:Cluap1	3	206	8.7e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177323
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000135766
Gene: ENSMUSG00000005983
AA Change: D130V

Domain	Start	End	E-Value	Type
Pfam:DUF4644	6	166	1.5e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177221
AA Change: D137V

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

SMART Domains

Protein: ENSMUSP00000134800
Gene: ENSMUSG00000005983
AA Change: D137V

Domain	Start	End	E-Value	Type
Pfam:DUF4644	13	144	7.2e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137745

Predicted Effect

probably benign
Transcript: ENSMUST00000176233

SMART Domains

Protein: ENSMUSP00000135826
Gene: ENSMUSG00000093575

Domain	Start	End	E-Value	Type
Pfam:Cluap1	119	282	2.8e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150655

SMART Domains

Protein: ENSMUSP00000135206
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	50	157	4.2e-11	PFAM
Pfam:Acetyltransf_1	57	156	4.2e-15	PFAM
Pfam:FR47	77	164	8.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175809

SMART Domains

Protein: ENSMUSP00000135810
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
SCOP:d1qsma_	12	67	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139294

Predicted Effect

probably benign
Transcript: ENSMUST00000176224

SMART Domains

Protein: ENSMUSP00000135152
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
SCOP:d1cjwa_	10	112	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145150

SMART Domains

Protein: ENSMUSP00000116855
Gene: ENSMUSG00000014232

Domain	Start	End	E-Value	Type
Pfam:Cluap1	3	188	9.9e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176625

SMART Domains

Protein: ENSMUSP00000134768
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	4	91	1.1e-13	PFAM
Pfam:Acetyltransf_7	7	92	1e-10	PFAM
Pfam:FR47	12	99	1.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186375

SMART Domains

Protein: ENSMUSP00000140031
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	50	157	4.2e-11	PFAM
Pfam:Acetyltransf_1	57	156	4.2e-15	PFAM
Pfam:FR47	77	164	8.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143537

SMART Domains

Protein: ENSMUSP00000135188
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
SCOP:d1cjwa_	10	113	9e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195807

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,533,880 (GRCm39)	T9A	probably benign	Het
Anapc1	C	A	2: 128,501,772 (GRCm39)	A757S	probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Cdh19	T	A	1: 110,853,616 (GRCm39)	K275I	probably benign	Het
Col18a1	A	G	10: 76,895,217 (GRCm39)	I1148T	possibly damaging	Het
Commd1	A	T	11: 22,850,017 (GRCm39)	V222D	probably damaging	Het
Crim1	T	A	17: 78,677,427 (GRCm39)	M876K	possibly damaging	Het
Dennd1b	C	A	1: 139,008,992 (GRCm39)	H232N	probably damaging	Het
Dhx57	T	C	17: 80,582,268 (GRCm39)	T393A	probably benign	Het
Dnai7	T	C	6: 145,123,090 (GRCm39)	Y592C	probably damaging	Het
Gabrb2	G	T	11: 42,482,721 (GRCm39)	R193L	probably benign	Het
Gm5828	T	A	1: 16,839,342 (GRCm39)		noncoding transcript	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,879,364 (GRCm39)	Y619C	possibly damaging	Het
Kctd19	A	G	8: 106,123,006 (GRCm39)	I136T	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or2w6	A	C	13: 21,843,170 (GRCm39)	F108V	probably benign	Het
Sel1l	T	C	12: 91,781,789 (GRCm39)	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,475,469 (GRCm39)		probably null	Het
Ush2a	C	T	1: 187,995,466 (GRCm39)	T79M	possibly damaging	Het
Usp24	T	C	4: 106,244,690 (GRCm39)	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,205,379 (GRCm39)		noncoding transcript	Het
Vmn2r75	T	C	7: 85,814,348 (GRCm39)	T382A	probably benign	Het
Vps53	T	C	11: 75,937,949 (GRCm39)	Y728C	probably benign	Het

Other mutations in 1700037C18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0485:1700037C18Rik	UTSW	16	3,725,511 (GRCm39)	missense	probably damaging	0.99
R1579:1700037C18Rik	UTSW	16	3,724,039 (GRCm39)	missense	probably benign	0.39
R1643:1700037C18Rik	UTSW	16	3,724,942 (GRCm39)	nonsense	probably null
R2181:1700037C18Rik	UTSW	16	3,724,950 (GRCm39)	missense	possibly damaging	0.53
R8191:1700037C18Rik	UTSW	16	3,724,918 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16