Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Gramd1c'

418318

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 #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

43800713-43883708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43802463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 649 (D649E)

Ref Sequence

ENSEMBL: ENSMUSP00000150056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036174] [ENSMUST00000036321] [ENSMUST00000114677] [ENSMUST00000165648] [ENSMUST00000179565] [ENSMUST00000214098] [ENSMUST00000231700] [ENSMUST00000232055]

AlphaFold

Q8CI52

Predicted Effect

probably benign
Transcript: ENSMUST00000036174
AA Change: D444E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292
AA Change: D444E

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: ENSMUST00000036321

SMART Domains

Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC
Pfam:zf-DHHC	175	378	3.8e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114677
AA Change: D444E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292
AA Change: D444E

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: ENSMUST00000165648

SMART Domains

Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC
transmembrane domain	161	180	N/A	INTRINSIC
Pfam:zf-DHHC	244	378	8.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179565
AA Change: D444E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292
AA Change: D444E

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: D649E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000231700

Predicted Effect

probably benign
Transcript: ENSMUST00000232055

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,247,965 (GRCm39)	Y25C	probably benign	Het
Agap3	A	C	5: 24,706,204 (GRCm39)	T823P	possibly damaging	Het
Arap3	T	C	18: 38,122,165 (GRCm39)	E641G	probably benign	Het
Armc6	C	T	8: 70,684,004 (GRCm39)	R16Q	probably benign	Het
Asb15	T	A	6: 24,567,185 (GRCm39)	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,366,438 (GRCm39)	N275I	probably damaging	Het
Calr	G	A	8: 85,573,373 (GRCm39)	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,810,122 (GRCm39)	L477*	probably null	Het
Clba1	T	C	12: 112,779,340 (GRCm39)		probably null	Het
Cnnm4	A	G	1: 36,510,952 (GRCm39)	D60G	probably benign	Het
Col12a1	G	T	9: 79,585,652 (GRCm39)	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,847,466 (GRCm39)	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,795,543 (GRCm39)	T69A	probably damaging	Het
Efhb	T	C	17: 53,769,958 (GRCm39)	Q117R	probably benign	Het
Fancd2	T	A	6: 113,514,558 (GRCm39)		probably null	Het
Fat3	C	T	9: 16,288,535 (GRCm39)	W329*	probably null	Het
Frem3	A	G	8: 81,344,858 (GRCm39)	Y1727C	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gatb	C	A	3: 85,526,330 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,809 (GRCm39)	S77T	probably damaging	Het
Herc2	T	A	7: 55,854,221 (GRCm39)	L3745H	probably damaging	Het
Klk1b11	T	A	7: 43,426,977 (GRCm39)	M87K	probably benign	Het
Krt39	T	G	11: 99,409,833 (GRCm39)		probably benign	Het
Lamc3	T	A	2: 31,798,710 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,285,025 (GRCm39)	M786R	probably damaging	Het
Lmcd1	T	A	6: 112,287,460 (GRCm39)	S49T	probably benign	Het
Lrba	T	C	3: 86,680,448 (GRCm39)	Y2689H	probably benign	Het
Map3k6	T	C	4: 132,970,677 (GRCm39)	V188A	probably benign	Het
Mbd6	A	C	10: 127,123,013 (GRCm39)	L49W	probably damaging	Het
Myo5a	A	T	9: 75,028,115 (GRCm39)	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,801,418 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,538,396 (GRCm39)	D663G	probably damaging	Het
Nup214	A	T	2: 31,908,254 (GRCm39)	M1075L	probably benign	Het
Pkd1l3	C	A	8: 110,382,165 (GRCm39)	Y240*	probably null	Het
Pomk	T	A	8: 26,473,338 (GRCm39)	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575 (GRCm39)		probably benign	Het
Setd1a	A	G	7: 127,385,672 (GRCm39)	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,737,890 (GRCm39)	E541G	probably benign	Het
Slc4a3	A	G	1: 75,531,661 (GRCm39)	E876G	probably benign	Het
Srrm4	A	G	5: 116,587,643 (GRCm39)		probably benign	Het
Stx12	A	G	4: 132,590,540 (GRCm39)	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721 (GRCm39)	S333T	probably damaging	Het
Usp31	T	C	7: 121,278,753 (GRCm39)		probably benign	Het
Utp18	T	C	11: 93,759,245 (GRCm39)	R410G	probably damaging	Het
Vmn1r172	T	C	7: 23,359,463 (GRCm39)	I116T	probably damaging	Het
Vwa8	T	A	14: 79,172,041 (GRCm39)	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 102,014,142 (GRCm39)	F2655I	probably damaging	Het
Zfp423	A	T	8: 88,508,071 (GRCm39)	Y737N	probably damaging	Het
Zyx	C	A	6: 42,334,276 (GRCm39)	S500*	probably null	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
IGL03325:Gramd1c	APN	16	43,825,868 (GRCm39)	missense	probably benign	0.03
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