Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Gramd1c'

710968

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 #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43800713-43883708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43833381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 187 (F187S)

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

SMART Domains

Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292

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

SMART Domains

Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292

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

SMART Domains

Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214098
AA Change: F187S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Ap1m2	A	G	9: 21,216,935 (GRCm39)	Y134H	probably damaging	Het
Arid5a	A	G	1: 36,358,073 (GRCm39)	T217A	probably benign	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ctss	T	C	3: 95,454,258 (GRCm39)	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gprin1	G	T	13: 54,887,383 (GRCm39)	T297N	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Por	T	A	5: 135,754,597 (GRCm39)	W6R	unknown	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCACCAAACGATGAGTTCAAAG -3'
(R):5'- TATGCCCAGCTCCCATTAAC -3'

Sequencing Primer
(F):5'- CCAAACGATGAGTTCAAAGAAATTC -3'
(R):5'- ATAGGCCAGGATCTATCCG -3'

Posted On

2022-04-18