Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03210:Gramd2b'

413272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gramd2b

Ensembl Gene

ENSMUSG00000001700

Gene Name

GRAM domain containing 2B

Synonyms

9130427A09Rik, Gramd3, 9030613F08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03210

Quality Score

Status

Chromosome

Chromosomal Location

56533412-56636864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56607170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 95 (T95A)

Ref Sequence

ENSEMBL: ENSMUSP00000068453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070166]

AlphaFold

Q6PEM6

Predicted Effect

probably benign
Transcript: ENSMUST00000070166
AA Change: T95A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: T95A

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	86	104	N/A	INTRINSIC
GRAM	110	177	3.06e-23	SMART
transmembrane domain	342	364	N/A	INTRINSIC
coiled coil region	404	430	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,141,635 (GRCm39)	F9L	probably benign	Het
Adora3	T	C	3: 105,815,176 (GRCm39)	S163P	probably benign	Het
Ark2c	C	A	18: 77,554,435 (GRCm39)	V60L	probably damaging	Het
C3	G	A	17: 57,522,846 (GRCm39)	Q1013*	probably null	Het
Cacna1b	A	T	2: 24,540,584 (GRCm39)	F1381Y	probably benign	Het
Dcdc2b	T	C	4: 129,505,578 (GRCm39)	K95R	probably benign	Het
Dnah8	A	G	17: 31,034,639 (GRCm39)	E4186G	probably damaging	Het
Dock1	T	C	7: 134,358,668 (GRCm39)	V374A	possibly damaging	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Hmgb4	A	G	4: 128,154,535 (GRCm39)	V11A	probably benign	Het
Knl1	G	A	2: 118,901,098 (GRCm39)	S933N	probably benign	Het
Ldlrad3	G	A	2: 101,900,271 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,390,331 (GRCm39)	Y1698F	probably benign	Het
Ms4a14	A	G	19: 11,279,325 (GRCm39)	W1078R	possibly damaging	Het
Nol4l	G	A	2: 153,371,378 (GRCm39)	P102L	probably benign	Het
Nsun3	A	G	16: 62,591,110 (GRCm39)	F178L	probably damaging	Het
Nup85	T	A	11: 115,457,462 (GRCm39)	Y55N	probably benign	Het
Opcml	A	G	9: 28,812,833 (GRCm39)	E175G	probably damaging	Het
Or10a3m	T	A	7: 108,312,775 (GRCm39)	Y60N	probably damaging	Het
Or11g7	A	T	14: 50,691,440 (GRCm39)	R310S	probably benign	Het
Or9g4	T	C	2: 85,504,697 (GRCm39)	Y266C	probably damaging	Het
Pask	A	T	1: 93,247,714 (GRCm39)	W1074R	possibly damaging	Het
Pdzrn3	T	C	6: 101,133,913 (GRCm39)	T439A	possibly damaging	Het
Pkd1l1	C	A	11: 8,915,127 (GRCm39)	V138L	unknown	Het
Ptprj	C	A	2: 90,300,070 (GRCm39)	V244L	probably benign	Het
Rapgef5	A	G	12: 117,706,607 (GRCm39)	K697E	probably damaging	Het
Rp9	G	T	9: 22,368,724 (GRCm39)	H78Q	probably benign	Het
Serpinb8	A	G	1: 107,530,641 (GRCm39)	T140A	probably damaging	Het
Slc29a4	A	T	5: 142,700,863 (GRCm39)	M203L	probably damaging	Het
Stag1	T	A	9: 100,727,129 (GRCm39)	L363I	possibly damaging	Het
Susd1	T	G	4: 59,333,035 (GRCm39)		probably null	Het
Thoc3	A	T	13: 54,614,035 (GRCm39)	M196K	probably benign	Het
Tnr	A	G	1: 159,715,880 (GRCm39)	T881A	probably benign	Het
Ttbk2	A	G	2: 120,652,973 (GRCm39)	V17A	probably damaging	Het
Ttc41	T	A	10: 86,560,278 (GRCm39)		probably null	Het
Utp14b	A	G	1: 78,643,268 (GRCm39)	M389V	probably benign	Het
Utp4	T	A	8: 107,642,888 (GRCm39)	H515Q	probably benign	Het
Xpo1	A	G	11: 23,228,834 (GRCm39)	H223R	probably benign	Het
Xpot	A	G	10: 121,451,132 (GRCm39)		probably benign	Het
Zfp455	A	T	13: 67,355,113 (GRCm39)	H127L	possibly damaging	Het
Zscan4e	T	A	7: 11,041,459 (GRCm39)	M166L	probably benign	Het

Other mutations in Gramd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Gramd2b	APN	18	56,618,488 (GRCm39)	missense	probably damaging	0.99
IGL01903:Gramd2b	APN	18	56,607,101 (GRCm39)	missense	probably damaging	0.99
IGL02203:Gramd2b	APN	18	56,612,026 (GRCm39)	critical splice donor site	probably null
PIT4283001:Gramd2b	UTSW	18	56,622,735 (GRCm39)	missense	probably damaging	1.00
R0432:Gramd2b	UTSW	18	56,607,141 (GRCm39)	missense	probably benign	0.00
R1623:Gramd2b	UTSW	18	56,565,423 (GRCm39)	missense	probably benign	0.00
R4019:Gramd2b	UTSW	18	56,612,026 (GRCm39)	critical splice donor site	probably null
R4125:Gramd2b	UTSW	18	56,618,296 (GRCm39)	missense	probably damaging	1.00
R4750:Gramd2b	UTSW	18	56,565,372 (GRCm39)	missense	probably benign	0.44
R4927:Gramd2b	UTSW	18	56,618,523 (GRCm39)	missense	probably damaging	0.96
R5495:Gramd2b	UTSW	18	56,615,694 (GRCm39)	missense	probably damaging	1.00
R5866:Gramd2b	UTSW	18	56,607,108 (GRCm39)	missense	possibly damaging	0.93
R6443:Gramd2b	UTSW	18	56,618,457 (GRCm39)	missense	probably benign	0.00
R6672:Gramd2b	UTSW	18	56,565,408 (GRCm39)	missense	possibly damaging	0.49
R7030:Gramd2b	UTSW	18	56,618,321 (GRCm39)	missense	probably damaging	1.00
R7099:Gramd2b	UTSW	18	56,625,017 (GRCm39)	missense	probably benign	0.01
R7162:Gramd2b	UTSW	18	56,618,529 (GRCm39)	critical splice donor site	probably null
R7854:Gramd2b	UTSW	18	56,611,926 (GRCm39)	missense	probably damaging	1.00
R7975:Gramd2b	UTSW	18	56,618,451 (GRCm39)	missense	probably benign	0.00
R9758:Gramd2b	UTSW	18	56,611,972 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02