Mutagenetix > Incidental Mutation

Incidental Mutation 'R6844:Gemin5'

534679

Institutional Source

Beutler Lab

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

MMRRC Submission

044950-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58010828-58059365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58054730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 224 (D224G)

Ref Sequence

ENSEMBL: ENSMUSP00000131842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]

AlphaFold

Q8BX17

Predicted Effect

probably benign
Transcript: ENSMUST00000035604
AA Change: D224G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: D224G

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102711
AA Change: D224G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: D224G

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1063	1083	N/A	INTRINSIC
low complexity region	1116	1131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134953

SMART Domains

Protein: ENSMUSP00000116600
Gene: ENSMUSG00000037275

Domain	Start	End	E-Value	Type
Blast:WD40	2	29	7e-12	BLAST
WD40	33	82	1.99e0	SMART
WD40	85	125	5.15e-2	SMART
WD40	132	172	8.49e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172035
AA Change: D224G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: D224G

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

92% (36/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap18	G	A	10: 26,648,682 (GRCm39)	A35T	probably benign	Het
Arhgap21	A	G	2: 20,886,116 (GRCm39)	S354P	probably benign	Het
Casq2	A	T	3: 102,017,578 (GRCm39)	H86L	possibly damaging	Het
Ccdc188	G	A	16: 18,036,074 (GRCm39)	G83E	probably damaging	Het
Cd22	G	T	7: 30,572,856 (GRCm39)		probably null	Het
Cyp2b13	T	A	7: 25,781,122 (GRCm39)	I178N	probably damaging	Het
Cyp4a31	T	A	4: 115,420,989 (GRCm39)	C26S	probably null	Het
Eif3h	T	C	15: 51,728,729 (GRCm39)	D42G	possibly damaging	Het
Elovl4	T	A	9: 83,672,164 (GRCm39)	I52L	probably benign	Het
Fgfbp3	C	A	19: 36,896,280 (GRCm39)	A113S	possibly damaging	Het
Fsip2	A	T	2: 82,813,969 (GRCm39)	K3429N	possibly damaging	Het
Gm3415	T	C	5: 146,494,811 (GRCm39)	I158T	probably benign	Het
Gpr22	C	A	12: 31,759,951 (GRCm39)	R20L	probably benign	Het
Htr1a	A	G	13: 105,581,455 (GRCm39)	K232E	possibly damaging	Het
Itgax	T	A	7: 127,747,106 (GRCm39)		probably null	Het
Jag2	T	C	12: 112,880,334 (GRCm39)	Y310C	probably damaging	Het
Lce1j	A	G	3: 92,696,656 (GRCm39)	S41P	unknown	Het
Mllt10	A	G	2: 18,164,294 (GRCm39)	I197V	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mybpc1	T	A	10: 88,372,243 (GRCm39)	I796F	possibly damaging	Het
Nr2c1	T	A	10: 94,007,029 (GRCm39)	L289*	probably null	Het
Omp	T	A	7: 97,794,283 (GRCm39)	M115L	probably benign	Het
Pdcd1	C	T	1: 93,967,106 (GRCm39)	R264H	probably benign	Het
Plxna2	T	C	1: 194,476,136 (GRCm39)	F1119L	probably benign	Het
Ralyl	A	G	3: 13,841,938 (GRCm39)	T25A	probably damaging	Het
Rapgef4	A	G	2: 72,064,970 (GRCm39)	T656A	probably damaging	Het
Ripor3	C	T	2: 167,835,253 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,205 (GRCm39)	S54P	probably damaging	Het
Serpinb9g	A	T	13: 33,670,616 (GRCm39)	I35F	probably damaging	Het
Shisa8	T	C	15: 82,096,310 (GRCm39)	S102G	probably damaging	Het
Slc4a1ap	T	A	5: 31,684,822 (GRCm39)	S153T	probably damaging	Het
Slc4a4	T	A	5: 89,376,831 (GRCm39)	D1028E	probably damaging	Het
Slc6a13	T	A	6: 121,302,012 (GRCm39)	I198N	probably damaging	Het
Sst	C	T	16: 23,708,592 (GRCm39)	D80N	probably benign	Het
Synj2	A	G	17: 6,026,081 (GRCm39)	K47E	probably damaging	Het
Tal1	C	T	4: 114,920,464 (GRCm39)	P46L	probably benign	Het
Top2b	A	T	14: 16,429,383 (GRCm38)	N1541I	possibly damaging	Het
Vps13b	T	A	15: 35,877,736 (GRCm39)	N2903K	probably benign	Het
Zfp949	A	G	9: 88,451,464 (GRCm39)	T345A	possibly damaging	Het
Zmat3	A	G	3: 32,395,644 (GRCm39)	Y288H	probably damaging	Het

Other mutations in Gemin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Gemin5	APN	11	58,054,643 (GRCm39)	missense	probably damaging	1.00
IGL00540:Gemin5	APN	11	58,051,644 (GRCm39)	missense	probably damaging	1.00
IGL01521:Gemin5	APN	11	58,025,744 (GRCm39)	splice site	probably benign
IGL02190:Gemin5	APN	11	58,025,668 (GRCm39)	missense	probably damaging	1.00
IGL02274:Gemin5	APN	11	58,047,621 (GRCm39)	missense	possibly damaging	0.80
IGL02494:Gemin5	APN	11	58,012,583 (GRCm39)	missense	probably benign	0.12
IGL02549:Gemin5	APN	11	58,025,629 (GRCm39)	missense	probably damaging	1.00
IGL02740:Gemin5	APN	11	58,042,390 (GRCm39)	missense	probably damaging	1.00
IGL02815:Gemin5	APN	11	58,037,235 (GRCm39)	missense	probably damaging	1.00
IGL02823:Gemin5	APN	11	58,058,531 (GRCm39)	splice site	probably benign
IGL02939:Gemin5	APN	11	58,047,556 (GRCm39)	missense	probably damaging	1.00
Landscape	UTSW	11	58,054,730 (GRCm39)	missense	probably benign	0.16
R0101:Gemin5	UTSW	11	58,036,322 (GRCm39)	missense	probably damaging	1.00
R0479:Gemin5	UTSW	11	58,030,377 (GRCm39)	missense	probably benign	0.00
R1481:Gemin5	UTSW	11	58,032,480 (GRCm39)	missense	probably damaging	1.00
R1642:Gemin5	UTSW	11	58,029,906 (GRCm39)	missense	probably damaging	1.00
R1648:Gemin5	UTSW	11	58,038,805 (GRCm39)	nonsense	probably null
R1980:Gemin5	UTSW	11	58,027,743 (GRCm39)	missense	probably damaging	1.00
R3079:Gemin5	UTSW	11	58,036,345 (GRCm39)	missense	probably damaging	1.00
R3418:Gemin5	UTSW	11	58,047,454 (GRCm39)	splice site	probably null
R4260:Gemin5	UTSW	11	58,059,185 (GRCm39)	missense	probably damaging	0.99
R4396:Gemin5	UTSW	11	58,030,375 (GRCm39)	missense	probably benign	0.05
R4902:Gemin5	UTSW	11	58,055,103 (GRCm39)	missense	probably benign	0.18
R5178:Gemin5	UTSW	11	58,037,344 (GRCm39)	missense	probably benign	0.01
R5296:Gemin5	UTSW	11	58,020,887 (GRCm39)	missense	probably damaging	1.00
R5350:Gemin5	UTSW	11	58,032,412 (GRCm39)	critical splice donor site	probably null
R5426:Gemin5	UTSW	11	58,016,113 (GRCm39)	missense	probably benign	0.00
R5494:Gemin5	UTSW	11	58,021,526 (GRCm39)	missense	probably damaging	1.00
R5744:Gemin5	UTSW	11	58,046,009 (GRCm39)	missense	possibly damaging	0.88
R5889:Gemin5	UTSW	11	58,013,181 (GRCm39)	missense	possibly damaging	0.76
R5984:Gemin5	UTSW	11	58,047,587 (GRCm39)	missense	probably damaging	1.00
R6934:Gemin5	UTSW	11	58,038,738 (GRCm39)	missense	probably damaging	1.00
R6999:Gemin5	UTSW	11	58,015,947 (GRCm39)	missense	probably benign	0.00
R7015:Gemin5	UTSW	11	58,047,566 (GRCm39)	missense	probably damaging	1.00
R7144:Gemin5	UTSW	11	58,032,489 (GRCm39)	missense	probably benign	0.30
R7176:Gemin5	UTSW	11	58,056,828 (GRCm39)	missense	probably benign	0.05
R7540:Gemin5	UTSW	11	58,021,228 (GRCm39)	splice site	probably null
R7670:Gemin5	UTSW	11	58,038,754 (GRCm39)	missense	probably benign	0.01
R7717:Gemin5	UTSW	11	58,042,356 (GRCm39)	critical splice donor site	probably null
R7791:Gemin5	UTSW	11	58,015,819 (GRCm39)	missense	probably benign	0.04
R7981:Gemin5	UTSW	11	58,036,231 (GRCm39)	missense	probably damaging	1.00
R8050:Gemin5	UTSW	11	58,019,686 (GRCm39)	missense	probably benign	0.00
R8307:Gemin5	UTSW	11	58,042,420 (GRCm39)	missense	probably damaging	1.00
R8353:Gemin5	UTSW	11	58,016,065 (GRCm39)	missense	probably benign	0.00
R8371:Gemin5	UTSW	11	58,017,384 (GRCm39)	missense	probably benign
R8453:Gemin5	UTSW	11	58,016,065 (GRCm39)	missense	probably benign	0.00
R9181:Gemin5	UTSW	11	58,021,035 (GRCm39)	missense	probably benign	0.00
R9294:Gemin5	UTSW	11	58,028,574 (GRCm39)	missense	probably benign	0.08
R9400:Gemin5	UTSW	11	58,028,541 (GRCm39)	missense	probably damaging	1.00
R9672:Gemin5	UTSW	11	58,058,585 (GRCm39)	missense	probably benign	0.00
R9722:Gemin5	UTSW	11	58,041,418 (GRCm39)	missense	probably damaging	1.00
R9790:Gemin5	UTSW	11	58,020,846 (GRCm39)	nonsense	probably null
R9791:Gemin5	UTSW	11	58,020,846 (GRCm39)	nonsense	probably null
X0066:Gemin5	UTSW	11	58,042,361 (GRCm39)	missense	probably benign	0.02
Z1186:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1186:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1186:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1186:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1188:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1189:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1189:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1190:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1191:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1192:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTTAGTCCCTCCAAGGTG -3'
(R):5'- TAACCACAGTGCATGTCCAGTG -3'

Sequencing Primer
(F):5'- ACTTAGTCCCTCCAAGGTGGGTAG -3'
(R):5'- AAAAATAAGCAGTTACTAGCTGCTC -3'

Posted On

2018-09-12