Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03325:Gramd1c'

416609

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gramd1c

Ensembl Gene

ENSMUSG00000036292

Gene Name

GRAM domain containing 1C

Synonyms

4921521N14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03325

Quality Score

Status

Chromosome

Chromosomal Location

43800713-43883708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43825868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 303 (Y303N)

Ref Sequence

ENSEMBL: ENSMUSP00000150056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036174] [ENSMUST00000114677] [ENSMUST00000179565] [ENSMUST00000214098]

AlphaFold

Q8CI52

Predicted Effect

probably benign
Transcript: ENSMUST00000036174
AA Change: Y98N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292
AA Change: Y98N

Domain	Start	End	E-Value	Type
Pfam:DUF4782	124	272	6.8e-38	PFAM
low complexity region	304	314	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114677
AA Change: Y98N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292
AA Change: Y98N

Domain	Start	End	E-Value	Type
low complexity region	304	314	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179565
AA Change: Y98N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292
AA Change: Y98N

Domain	Start	End	E-Value	Type
low complexity region	304	314	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214098
AA Change: Y303N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,844,422 (GRCm39)	R870C	possibly damaging	Het
Abcf2	A	T	5: 24,779,210 (GRCm39)	L113I	probably damaging	Het
Abi1	C	T	2: 22,861,240 (GRCm39)	R106Q	probably damaging	Het
Arhgef28	A	G	13: 98,036,324 (GRCm39)	V1645A	probably benign	Het
Ccdc198	A	T	14: 49,481,277 (GRCm39)		probably benign	Het
Ceacam1	G	A	7: 25,175,912 (GRCm39)	A94V	possibly damaging	Het
Fat2	G	A	11: 55,173,168 (GRCm39)	T2515I	probably damaging	Het
Gm5800	T	C	14: 51,951,983 (GRCm39)	Y93C	probably benign	Het
Gnl1	A	G	17: 36,299,548 (GRCm39)	D573G	probably damaging	Het
Gosr1	A	G	11: 76,645,229 (GRCm39)	M105T	probably benign	Het
Heatr9	A	G	11: 83,404,085 (GRCm39)		probably null	Het
Iigp1c	T	A	18: 60,378,883 (GRCm39)	Y139*	probably null	Het
Itih2	T	C	2: 10,111,546 (GRCm39)	D464G	probably damaging	Het
Jcad	T	C	18: 4,673,902 (GRCm39)	Y555H	probably benign	Het
Krtap19-3	A	T	16: 88,674,609 (GRCm39)	*88R	probably null	Het
Mrps11	T	C	7: 78,440,453 (GRCm39)	F114S	probably damaging	Het
Nat8	A	T	6: 85,807,875 (GRCm39)	V86E	possibly damaging	Het
Nek5	T	C	8: 22,569,158 (GRCm39)	T555A	probably benign	Het
Or6c3	A	T	10: 129,309,474 (GRCm39)	K304N	probably benign	Het
Pprc1	C	T	19: 46,049,948 (GRCm39)	T10I	possibly damaging	Het
Prss16	A	G	13: 22,187,417 (GRCm39)	V409A	possibly damaging	Het
Sema3d	T	A	5: 12,513,189 (GRCm39)	L53Q	probably damaging	Het
Sfmbt2	T	C	2: 10,582,628 (GRCm39)	Y696H	probably damaging	Het
Sh2d3c	C	T	2: 32,615,270 (GRCm39)	A120V	probably benign	Het
Smn1	A	G	13: 100,264,365 (GRCm39)	Y32C	probably damaging	Het
Sun2	C	T	15: 79,622,849 (GRCm39)	R110Q	probably benign	Het
Tcp11l2	T	G	10: 84,440,764 (GRCm39)	D323E	possibly damaging	Het
Tex55	A	T	16: 38,648,355 (GRCm39)	S251R	probably damaging	Het
Tnni3k	A	T	3: 154,667,451 (GRCm39)	S296R	probably damaging	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Unc79	T	A	12: 103,135,869 (GRCm39)	S2435T	probably damaging	Het
Vmn2r114	C	A	17: 23,510,652 (GRCm39)	K609N	probably damaging	Het

Other mutations in Gramd1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Gramd1c	APN	16	43,811,061 (GRCm39)	missense	probably damaging	1.00
IGL01623:Gramd1c	APN	16	43,811,061 (GRCm39)	missense	probably damaging	1.00
IGL03090:Gramd1c	APN	16	43,802,463 (GRCm39)	missense	probably benign	0.11
IGL03047:Gramd1c	UTSW	16	43,808,610 (GRCm39)	missense	probably damaging	1.00
R0173:Gramd1c	UTSW	16	43,818,196 (GRCm39)	missense	possibly damaging	0.95
R1221:Gramd1c	UTSW	16	43,810,227 (GRCm39)	missense	possibly damaging	0.54
R1299:Gramd1c	UTSW	16	43,803,865 (GRCm39)	unclassified	probably benign
R1389:Gramd1c	UTSW	16	43,811,085 (GRCm39)	missense	probably damaging	1.00
R2330:Gramd1c	UTSW	16	43,803,566 (GRCm39)	missense	probably benign	0.00
R3760:Gramd1c	UTSW	16	43,818,154 (GRCm39)	missense	probably damaging	1.00
R4851:Gramd1c	UTSW	16	43,810,200 (GRCm39)	missense	probably damaging	1.00
R5032:Gramd1c	UTSW	16	43,811,026 (GRCm39)	missense	probably damaging	1.00
R5374:Gramd1c	UTSW	16	43,803,604 (GRCm39)	missense	probably benign
R5538:Gramd1c	UTSW	16	43,802,455 (GRCm39)	missense	probably damaging	0.98
R5859:Gramd1c	UTSW	16	43,812,454 (GRCm39)	missense	possibly damaging	0.81
R6600:Gramd1c	UTSW	16	43,860,482 (GRCm39)	nonsense	probably null
R6899:Gramd1c	UTSW	16	43,860,505 (GRCm39)	missense	probably benign	0.01
R7202:Gramd1c	UTSW	16	43,879,584 (GRCm39)	missense	possibly damaging	0.95
R7648:Gramd1c	UTSW	16	43,810,232 (GRCm39)	missense	probably damaging	1.00
R7880:Gramd1c	UTSW	16	43,812,439 (GRCm39)	missense	probably benign	0.16
R9398:Gramd1c	UTSW	16	43,833,381 (GRCm39)	missense	probably damaging	1.00
R9552:Gramd1c	UTSW	16	43,807,294 (GRCm39)	missense	probably damaging	0.98
R9715:Gramd1c	UTSW	16	43,825,840 (GRCm39)	missense	possibly damaging	0.93
R9755:Gramd1c	UTSW	16	43,803,879 (GRCm39)	missense	probably benign	0.00
X0057:Gramd1c	UTSW	16	43,803,580 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02