Mutagenetix > Incidental Mutation

Incidental Mutation 'R8272:Gramd1b'

637788

Institutional Source

Beutler Lab

Gene Symbol

Gramd1b

Ensembl Gene

ENSMUSG00000040111

Gene Name

GRAM domain containing 1B

Synonyms

A930008A22Rik

MMRRC Submission

067695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8272 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40204529-40442679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40215820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 677 (T677A)

Ref Sequence

ENSEMBL: ENSMUSP00000048126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000118159] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000211853]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045682
AA Change: T677A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: T677A

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
Pfam:DUF4782	519	667	1.6e-38	PFAM
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118159
AA Change: T493A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: T493A

Domain	Start	End	E-Value	Type
low complexity region	19	42	N/A	INTRINSIC
GRAM	56	123	1.54e-28	SMART
low complexity region	191	201	N/A	INTRINSIC
low complexity region	512	526	N/A	INTRINSIC
transmembrane domain	584	606	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: T560A

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
GRAM	126	193	1.54e-28	SMART
low complexity region	261	271	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
transmembrane domain	654	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121357
AA Change: T529A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: T529A

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
GRAM	92	159	1.54e-28	SMART
low complexity region	227	237	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
transmembrane domain	620	642	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: T287A

Domain	Start	End	E-Value	Type
Pfam:DUF4782	130	278	2.3e-39	PFAM
low complexity region	307	321	N/A	INTRINSIC
transmembrane domain	379	401	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165104
AA Change: T677A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: T677A

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211853
AA Change: T562A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,859,118 (GRCm39)	E90*	probably null	Het
Abca15	A	G	7: 120,006,665 (GRCm39)	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,969,630 (GRCm39)	A123D	probably damaging	Het
Asmt	A	T	X: 169,106,460 (GRCm39)	D20V	possibly damaging	Het
Bid	T	C	6: 120,877,176 (GRCm39)	E55G	probably damaging	Het
Brd3	A	G	2: 27,351,725 (GRCm39)	V176A	probably benign	Het
Btnl2	G	T	17: 34,575,275 (GRCm39)		probably null	Het
Card11	A	G	5: 140,875,794 (GRCm39)	S562P	probably damaging	Het
Carmil1	T	G	13: 24,220,562 (GRCm39)	H1054P	probably benign	Het
Casp8	T	G	1: 58,872,901 (GRCm39)	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cfap45	G	A	1: 172,355,406 (GRCm39)	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,092,175 (GRCm39)	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175 (GRCm39)	P333L	possibly damaging	Het
Cspg4b	A	T	13: 113,504,889 (GRCm39)	D1979V		Het
Ctnna3	T	G	10: 64,838,377 (GRCm39)	V818G	probably damaging	Het
Cyp4f18	G	T	8: 72,742,935 (GRCm39)	L456M	probably benign	Het
Ddx50	A	G	10: 62,457,256 (GRCm39)	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dnah11	T	A	12: 118,074,752 (GRCm39)	T1367S	probably benign	Het
Fam98b	T	A	2: 117,093,335 (GRCm39)	C183S	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,388,828 (GRCm39)	S194A	probably benign	Het
Flrt3	G	T	2: 140,502,617 (GRCm39)	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,612,183 (GRCm39)	Y527H	possibly damaging	Het
Grm8	A	T	6: 27,363,281 (GRCm39)	S745T	probably damaging	Het
Kctd8	T	C	5: 69,267,803 (GRCm39)	K436E	probably benign	Het
Klf5	G	T	14: 99,539,540 (GRCm39)	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,179,566 (GRCm39)	V505M	unknown	Het
Letm2	A	G	8: 26,076,672 (GRCm39)	L310P	probably damaging	Het
Lrrc4	T	C	6: 28,662,192 (GRCm39)	H174R	unknown	Het
Myh11	T	C	16: 14,036,718 (GRCm39)	S995G		Het
Myh7b	A	T	2: 155,474,824 (GRCm39)	E1787D	probably damaging	Het
Myoc	T	C	1: 162,466,995 (GRCm39)	S55P	probably benign	Het
Naaladl2	T	C	3: 24,112,366 (GRCm39)	Q572R	probably damaging	Het
Nanog	T	A	6: 122,688,736 (GRCm39)	S131T	probably benign	Het
Nifk	A	G	1: 118,260,134 (GRCm39)	K230E	probably benign	Het
Nlrp10	A	G	7: 108,525,103 (GRCm39)	S126P	probably benign	Het
Npc1l1	T	A	11: 6,179,327 (GRCm39)	K28*	probably null	Het
Or13m2-ps1	A	G	6: 42,778,038 (GRCm39)	D121G	probably damaging	Het
Or5b102	G	A	19: 13,040,795 (GRCm39)	V7M	possibly damaging	Het
Pcdhac2	T	A	18: 37,279,242 (GRCm39)	C741S	probably benign	Het
Pcx	A	T	19: 4,651,758 (GRCm39)	N45I	probably damaging	Het
Peak1	A	G	9: 56,166,182 (GRCm39)	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,546,218 (GRCm39)	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,654,789 (GRCm39)	A726V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp3	T	C	16: 17,026,969 (GRCm39)	V131A	possibly damaging	Het
Rrp1b	A	G	17: 32,276,163 (GRCm39)	K570R	probably benign	Het
Serpinb1a	A	T	13: 33,029,720 (GRCm39)	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,070,736 (GRCm39)	L1076S	probably damaging	Het
Sspo	A	T	6: 48,425,453 (GRCm39)	T25S	probably benign	Het
Syvn1	G	A	19: 6,097,971 (GRCm39)	R3H	probably damaging	Het
Tead2	A	G	7: 44,878,166 (GRCm39)	E280G	probably benign	Het
Tmem263	T	A	10: 84,950,431 (GRCm39)	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332 (GRCm39)	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,033,171 (GRCm39)	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,180,146 (GRCm39)	E62V	probably benign	Het
Trim27	G	A	13: 21,364,780 (GRCm39)	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,816,490 (GRCm39)	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,702,373 (GRCm39)	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,596,817 (GRCm39)	F79L	probably benign	Het
Vps13a	A	G	19: 16,727,209 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,345,142 (GRCm39)	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,308,927 (GRCm39)	S718A	probably damaging	Het
Zfp78	A	G	7: 6,376,213 (GRCm39)	T41A	probably benign	Het

Other mutations in Gramd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gramd1b	APN	9	40,221,337 (GRCm39)	missense	probably damaging	0.97
IGL00575:Gramd1b	APN	9	40,238,707 (GRCm39)	splice site	probably benign
IGL01596:Gramd1b	APN	9	40,214,809 (GRCm39)	missense	probably damaging	1.00
IGL01810:Gramd1b	APN	9	40,227,069 (GRCm39)	missense	probably damaging	1.00
IGL02148:Gramd1b	APN	9	40,227,060 (GRCm39)	missense	probably damaging	1.00
IGL02206:Gramd1b	APN	9	40,211,328 (GRCm39)	missense	probably benign	0.01
IGL02626:Gramd1b	APN	9	40,209,306 (GRCm39)	missense	probably damaging	0.98
IGL02723:Gramd1b	APN	9	40,218,127 (GRCm39)	missense	probably damaging	0.97
IGL03192:Gramd1b	APN	9	40,218,097 (GRCm39)	missense	probably damaging	1.00
I2288:Gramd1b	UTSW	9	40,218,101 (GRCm39)	missense	probably damaging	0.97
PIT4283001:Gramd1b	UTSW	9	40,366,752 (GRCm39)	missense	probably benign	0.01
R0038:Gramd1b	UTSW	9	40,228,822 (GRCm39)	missense	probably damaging	1.00
R0038:Gramd1b	UTSW	9	40,228,822 (GRCm39)	missense	probably damaging	1.00
R0600:Gramd1b	UTSW	9	40,219,651 (GRCm39)	missense	probably damaging	1.00
R1290:Gramd1b	UTSW	9	40,228,117 (GRCm39)	splice site	probably null
R1637:Gramd1b	UTSW	9	40,215,834 (GRCm39)	splice site	probably null
R1782:Gramd1b	UTSW	9	40,324,633 (GRCm39)	missense	probably damaging	1.00
R1928:Gramd1b	UTSW	9	40,217,765 (GRCm39)	missense	possibly damaging	0.70
R3620:Gramd1b	UTSW	9	40,366,842 (GRCm39)	missense	probably benign	0.01
R3943:Gramd1b	UTSW	9	40,442,340 (GRCm39)	start codon destroyed	probably null
R4613:Gramd1b	UTSW	9	40,219,289 (GRCm39)	missense	probably damaging	1.00
R4740:Gramd1b	UTSW	9	40,227,128 (GRCm39)	splice site	probably null
R4808:Gramd1b	UTSW	9	40,215,645 (GRCm39)	missense	possibly damaging	0.58
R5407:Gramd1b	UTSW	9	40,366,951 (GRCm39)	missense	probably damaging	0.97
R6209:Gramd1b	UTSW	9	40,244,946 (GRCm39)	missense	probably damaging	1.00
R6797:Gramd1b	UTSW	9	40,219,702 (GRCm39)	missense	probably benign	0.34
R7103:Gramd1b	UTSW	9	40,312,902 (GRCm39)	missense	unknown
R7185:Gramd1b	UTSW	9	40,244,859 (GRCm39)	missense	probably benign	0.03
R7352:Gramd1b	UTSW	9	40,219,289 (GRCm39)	missense	probably damaging	1.00
R7409:Gramd1b	UTSW	9	40,238,727 (GRCm39)	missense	probably damaging	1.00
R7561:Gramd1b	UTSW	9	40,312,911 (GRCm39)	missense	unknown
R8474:Gramd1b	UTSW	9	40,287,207 (GRCm39)	critical splice donor site	probably null
R8690:Gramd1b	UTSW	9	40,215,674 (GRCm39)	missense	probably damaging	1.00
R8818:Gramd1b	UTSW	9	40,215,780 (GRCm39)	missense	probably benign	0.01
R9493:Gramd1b	UTSW	9	40,217,689 (GRCm39)	missense	probably damaging	1.00
R9648:Gramd1b	UTSW	9	40,244,793 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCACATCTTCATCAGTGGGTG -3'
(R):5'- GGCATGTGTTTTAGCAAGCG -3'

Sequencing Primer
(F):5'- GTGTGGTGACAGGACTCATC -3'
(R):5'- GCTGTAAATTATATACATGGAGGTGC -3'

Posted On

2020-07-28