Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Gmnc'

559132

Institutional Source

Beutler Lab

Gene Symbol

Gmnc

Ensembl Gene

ENSMUSG00000068428

Gene Name

geminin coiled-coil domain containing

Synonyms

LOC385639, Gm606, LOC239789

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26913553-26991652 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26960529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 249 (D249N)

Ref Sequence

ENSEMBL: ENSMUSP00000087269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089832] [ENSMUST00000231299] [ENSMUST00000231417] [ENSMUST00000231969]

AlphaFold

Q3URY2

Predicted Effect

probably benign
Transcript: ENSMUST00000089832
AA Change: D249N

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: D249N

Domain	Start	End	E-Value	Type
coiled coil region	89	124	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231299
AA Change: D201N

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000231417

Predicted Effect

probably benign
Transcript: ENSMUST00000231969
AA Change: D243N

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die within the first postnatal week exhibiting severe postnatal growth retardation and absence of respiratory motile cilia in tracheal epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871		probably null	Het
Cacna1g	C	T	11: 94,439,737	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc42bpg	A	G	19: 6,310,797	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,748,932	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259		probably null	Het
Crmp1	C	A	5: 37,288,817	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654	H346R	probably benign	Het
Emc3	G	T	6: 113,531,384	Y33*	probably null	Het
Ercc5	A	T	1: 44,161,808		probably null	Het
Ercc5	G	T	1: 44,161,809		probably null	Het
Fat3	A	C	9: 15,922,837	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605		probably null	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gsn	C	T	2: 35,294,948	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,738,550		probably null	Het
Hoxd9	G	T	2: 74,698,365	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332	D70Y	probably damaging	Het
P4htm	A	T	9: 108,581,860	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,133,090	S49P	probably benign	Het
Pdzd7	A	G	19: 45,037,114	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082	R31*	probably null	Het
Phlpp2	C	A	8: 109,939,953	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 133,066,465	S56P	probably benign	Het
Plec	A	G	15: 76,205,705	V145A	unknown	Het
Prg3	G	A	2: 84,991,504	V158I	probably benign	Het
Prg3	G	T	2: 84,993,023	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,955,204	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359		probably null	Het
Tnc	A	G	4: 64,013,128	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637		probably null	Het
Vmn2r101	T	A	17: 19,612,178	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474	S290P	probably damaging	Het

Other mutations in Gmnc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Gmnc	APN	16	26963939	missense	probably damaging	0.99
IGL01612:Gmnc	APN	16	26960319	nonsense	probably null
IGL02600:Gmnc	APN	16	26962891	splice site	probably benign
R0465:Gmnc	UTSW	16	26962952	missense	probably damaging	0.98
R0925:Gmnc	UTSW	16	26960423	missense	probably benign	0.08
R1388:Gmnc	UTSW	16	26963912	missense	probably damaging	1.00
R1405:Gmnc	UTSW	16	26960446	missense	possibly damaging	0.86
R1405:Gmnc	UTSW	16	26960446	missense	possibly damaging	0.86
R1566:Gmnc	UTSW	16	26963939	missense	probably damaging	0.99
R1574:Gmnc	UTSW	16	26963979	splice site	probably benign
R1759:Gmnc	UTSW	16	26965747	missense	possibly damaging	0.82
R1880:Gmnc	UTSW	16	26965611	missense	probably damaging	1.00
R2151:Gmnc	UTSW	16	26960706	missense	possibly damaging	0.91
R3017:Gmnc	UTSW	16	26960415	missense	probably benign	0.00
R3437:Gmnc	UTSW	16	26960467	missense	probably benign	0.02
R5078:Gmnc	UTSW	16	26965582	missense	probably benign	0.13
R5225:Gmnc	UTSW	16	26963945	missense	probably benign	0.04
R5589:Gmnc	UTSW	16	26962964	missense	probably damaging	1.00
R6615:Gmnc	UTSW	16	26960528	missense	probably benign	0.14
R7078:Gmnc	UTSW	16	26960522	missense	probably benign
R7284:Gmnc	UTSW	16	26960792	missense	probably benign	0.37
R8460:Gmnc	UTSW	16	26960454	missense	probably benign	0.08
R9149:Gmnc	UTSW	16	26962892	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAAGGCTTGTCCCTGGTG -3'
(R):5'- GTTTTCTAACTGTGAGGAACAACC -3'

Sequencing Primer
(F):5'- TCACATTACAGTGAGGGCTCAAAG -3'
(R):5'- GAACAACCTGGGCCCCATG -3'

Posted On

2019-06-26