Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Get1'

478969

Institutional Source

Beutler Lab

Gene Symbol

Get1

Ensembl Gene

ENSMUSG00000023147

Gene Name

guided entry of tail-anchored proteins factor 1

Synonyms

Chd5, C030018G21Rik, Wrb, 5530402J05Rik

MMRRC Submission

044194-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6021 (G1)

Quality Score

107.008

Status

Validated

Chromosome

Chromosomal Location

95946607-95959052 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 95946878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023913] [ENSMUST00000135448]

AlphaFold

Q8K0D7

Predicted Effect

probably benign
Transcript: ENSMUST00000023913

SMART Domains

Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147

Domain	Start	End	E-Value	Type
Pfam:CHD5	12	163	1.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129569

Predicted Effect

unknown
Transcript: ENSMUST00000135448
AA Change: S68P

SMART Domains

Protein: ENSMUSP00000122059
Gene: ENSMUSG00000023147
AA Change: S68P

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140476

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,509 (GRCm39)	D141G	possibly damaging	Het
A1bg	T	C	15: 60,791,713 (GRCm39)	E241G	possibly damaging	Het
Abca13	G	A	11: 9,240,465 (GRCm39)	W776*	probably null	Het
Akr1b10	T	A	6: 34,369,309 (GRCm39)		probably null	Het
Aopep	A	G	13: 63,208,896 (GRCm39)	T338A	probably damaging	Het
Atf7	T	C	15: 102,465,908 (GRCm39)	D84G	probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Azi2	T	A	9: 117,876,487 (GRCm39)	M1K	probably null	Het
Boc	T	A	16: 44,309,017 (GRCm39)	M832L	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacna1s	T	C	1: 136,034,225 (GRCm39)	L1050P	probably benign	Het
Celsr2	G	T	3: 108,308,561 (GRCm39)	P1789T	probably benign	Het
Crebbp	G	A	16: 3,903,282 (GRCm39)	R1986C	probably damaging	Het
Crtam	T	A	9: 40,901,477 (GRCm39)	I150F	probably damaging	Het
Crybg1	G	T	10: 43,873,534 (GRCm39)	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,167,552 (GRCm39)	T1017A	probably benign	Het
Dnah10	A	G	5: 124,814,048 (GRCm39)	E396G	probably damaging	Het
Enpp5	A	T	17: 44,396,210 (GRCm39)	Y374F	probably benign	Het
Fzd4	G	A	7: 89,056,942 (GRCm39)	A330T	probably benign	Het
Gabra5	A	G	7: 57,157,740 (GRCm39)	S25P	probably benign	Het
Ggps1	T	C	13: 14,228,589 (GRCm39)	Y198C	probably damaging	Het
Gm3173	A	C	14: 15,728,458 (GRCm39)	D39A	probably damaging	Het
Grm2	T	C	9: 106,527,999 (GRCm39)	D295G	probably damaging	Het
H2-T13	T	G	17: 36,392,166 (GRCm39)	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,902,363 (GRCm39)	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,131,173 (GRCm39)	M343K	possibly damaging	Het
Kif19b	A	T	5: 140,455,434 (GRCm39)	M347L	probably damaging	Het
Loxhd1	A	T	18: 77,499,946 (GRCm39)	D120V	probably damaging	Het
Lrp1	T	C	10: 127,413,883 (GRCm39)	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,234,439 (GRCm39)	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,516,005 (GRCm39)	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,803,708 (GRCm39)	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063 (GRCm39)	V128E	probably benign	Het
Mtf2	A	G	5: 108,229,003 (GRCm39)	I69V	possibly damaging	Het
Myh10	T	A	11: 68,699,688 (GRCm39)	S1712T	possibly damaging	Het
Mylk3	A	G	8: 86,091,442 (GRCm39)	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760 (GRCm39)	N100D	probably benign	Het
Notch2	T	C	3: 98,029,288 (GRCm39)	F1017S	probably damaging	Het
Or4a27	G	T	2: 88,559,294 (GRCm39)	Y216*	probably null	Het
Or4a80	A	C	2: 89,582,465 (GRCm39)	S236A	probably benign	Het
Or4c108	G	T	2: 88,803,376 (GRCm39)	Y286*	probably null	Het
P2ry2	T	C	7: 100,647,607 (GRCm39)	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,593,671 (GRCm39)		probably null	Het
Pak1	T	C	7: 97,503,670 (GRCm39)	S2P	probably damaging	Het
Pde8b	A	T	13: 95,162,670 (GRCm39)	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,173,338 (GRCm39)		probably benign	Het
Pramel28	A	T	4: 143,692,336 (GRCm39)	C222S	probably benign	Het
Raver1	A	G	9: 20,987,918 (GRCm39)	L606P	probably damaging	Het
Robo3	C	T	9: 37,333,829 (GRCm39)	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rxfp2	A	G	5: 149,987,202 (GRCm39)	N337S	possibly damaging	Het
Samhd1	T	C	2: 156,962,474 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,079,655 (GRCm39)	V879A	probably benign	Het
Slc4a4	A	T	5: 89,188,261 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,207,012 (GRCm39)	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,383,321 (GRCm39)	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,759,103 (GRCm39)	I632N	probably damaging	Het
Tmem145	C	T	7: 25,008,270 (GRCm39)		probably null	Het
Trmt61a	C	A	12: 111,647,411 (GRCm39)	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,313,391 (GRCm39)	I95L	probably benign	Het
Vmn1r85	T	C	7: 12,818,616 (GRCm39)	E176G	probably benign	Het
Vmn2r75	T	C	7: 85,820,820 (GRCm39)	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,598,210 (GRCm39)	Y78C	probably damaging	Het
Zfp964	G	T	8: 70,115,742 (GRCm39)	S114I	unknown	Het

Other mutations in Get1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0413:Get1	UTSW	16	95,954,217 (GRCm39)	missense	probably benign	0.03
R0740:Get1	UTSW	16	95,946,798 (GRCm39)	intron	probably benign
R4028:Get1	UTSW	16	95,946,784 (GRCm39)	splice site	probably null
R4170:Get1	UTSW	16	95,954,176 (GRCm39)	missense	probably benign
R4508:Get1	UTSW	16	95,946,899 (GRCm39)	intron	probably benign
R7191:Get1	UTSW	16	95,953,145 (GRCm39)	missense	possibly damaging	0.90
R7886:Get1	UTSW	16	95,946,768 (GRCm39)	missense	possibly damaging	0.73
R9095:Get1	UTSW	16	95,954,244 (GRCm39)	splice site	probably benign
R9161:Get1	UTSW	16	95,953,139 (GRCm39)	missense	probably damaging	0.99
R9188:Get1	UTSW	16	95,955,363 (GRCm39)	missense	probably benign	0.00
R9244:Get1	UTSW	16	95,955,383 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTAACATCCCATGCTGCCC -3'
(R):5'- AGAACGGTATGGCCTGTTTAG -3'

Sequencing Primer
(F):5'- AGTTGACGACGCTGCTC -3'
(R):5'- AACGGTATGGCCTGTTTAGATTGC -3'

Posted On

2017-06-26