Mutagenetix > Incidental Mutation

Incidental Mutation 'R9755:Gramd1c'

732705

Institutional Source

Beutler Lab

Gene Symbol

Gramd1c

Ensembl Gene

ENSMUSG00000036292

Gene Name

GRAM domain containing 1C

Synonyms

4921521N14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43800713-43883708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43803879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 393 (K393N)

Ref Sequence

ENSEMBL: ENSMUSP00000036739 (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: K393N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292
AA Change: K393N

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: K393N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292
AA Change: K393N

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: K393N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292
AA Change: K393N

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: K598N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231700

Predicted Effect

probably benign
Transcript: ENSMUST00000232055

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,889,292 (GRCm39)	M774K	probably damaging	Het
Adamts9	T	C	6: 92,856,922 (GRCm39)	R906G	probably benign	Het
Adgrl4	A	T	3: 151,216,418 (GRCm39)	T534S	probably benign	Het
Amph	A	T	13: 19,297,325 (GRCm39)	D357V	probably damaging	Het
Arhgap33	C	T	7: 30,227,926 (GRCm39)	V452I	possibly damaging	Het
B4galnt2	G	A	11: 95,774,801 (GRCm39)	Q160*	probably null	Het
C1galt1	T	G	6: 7,867,019 (GRCm39)	N288K	probably benign	Het
Cacna1c	T	C	6: 118,651,559 (GRCm39)	D967G	probably damaging	Het
Cacul1	C	T	19: 60,533,955 (GRCm39)	E216K	probably damaging	Het
Cenpq	A	T	17: 41,243,712 (GRCm39)	S45R	probably benign	Het
Cfap54	T	A	10: 92,757,230 (GRCm39)	M2216L	unknown	Het
Cfhr1	A	G	1: 139,487,889 (GRCm39)	F3S	probably benign	Het
Csf2rb	T	G	15: 78,232,824 (GRCm39)	Y710*	probably null	Het
Dhh	A	G	15: 98,792,939 (GRCm39)	V107A	possibly damaging	Het
Etl4	A	T	2: 20,790,048 (GRCm39)	T849S	probably benign	Het
Gnrh1	G	A	14: 67,986,699 (GRCm39)	E78K	possibly damaging	Het
Golga3	A	G	5: 110,340,847 (GRCm39)	T514A	probably benign	Het
Kcp	T	C	6: 29,492,460 (GRCm39)	Y844C	probably damaging	Het
Lrrc15	T	A	16: 30,093,147 (GRCm39)	H64L	possibly damaging	Het
Mak	G	T	13: 41,199,623 (GRCm39)	Q339K	probably benign	Het
Mdfic	G	T	6: 15,799,758 (GRCm39)	C295F	probably damaging	Het
Mdfic2	A	T	6: 98,225,147 (GRCm39)	N45K	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Miip	A	T	4: 147,950,319 (GRCm39)	Y92*	probably null	Het
Mycbp2	A	T	14: 103,551,806 (GRCm39)	S175T	probably benign	Het
Nacad	A	G	11: 6,549,374 (GRCm39)		probably null	Het
Ndnf	T	G	6: 65,680,502 (GRCm39)	D260E	probably benign	Het
Nphp1	G	A	2: 127,595,951 (GRCm39)	Q505*	probably null	Het
Or12e7	C	A	2: 87,287,719 (GRCm39)	A70E	probably damaging	Het
Or8g29-ps1	A	G	9: 39,200,970 (GRCm39)	V72A	possibly damaging	Het
Plcg1	G	A	2: 160,573,780 (GRCm39)	G15D	probably benign	Het
Ppm1h	A	G	10: 122,638,165 (GRCm39)	Y145C	probably damaging	Het
Prickle2	C	T	6: 92,399,319 (GRCm39)	C186Y	probably damaging	Het
Prmt6	A	C	3: 110,157,359 (GRCm39)	L310R	probably damaging	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Sapcd1	A	G	17: 35,245,400 (GRCm39)	S128P	probably benign	Het
Scart2	T	A	7: 139,841,544 (GRCm39)		probably null	Het
Sema3b	T	C	9: 107,478,784 (GRCm39)	S331G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skil	A	G	3: 31,151,544 (GRCm39)	E22G	probably benign	Het
Slc13a1	T	C	6: 24,134,407 (GRCm39)	I159V	probably benign	Het
Slc44a4	A	G	17: 35,136,331 (GRCm39)	I41V	probably benign	Het
Taar2	T	C	10: 23,817,038 (GRCm39)	F193L	probably damaging	Het
Taar8a	A	G	10: 23,952,995 (GRCm39)	I200V	probably benign	Het
Trpc4	A	G	3: 54,223,215 (GRCm39)	Y717C	probably damaging	Het
Vmn2r116	A	T	17: 23,620,065 (GRCm39)	T600S	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp318	A	G	17: 46,722,055 (GRCm39)	T1353A	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	possibly 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
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
X0057:Gramd1c	UTSW	16	43,803,580 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTATTGTGCCCCATGAATTGC -3'
(R):5'- ACAGACTCTATGGTGTCGTGTG -3'

Sequencing Primer
(F):5'- TGTGCCCCATGAATTGCAAATAAAAC -3'
(R):5'- TCGTGTGCTGGGCTACCTC -3'

Posted On

2022-11-14