Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Gmcl1'

555307

Institutional Source

Beutler Lab

Gene Symbol

Gmcl1

Ensembl Gene

ENSMUSG00000001157

Gene Name

germ cell-less, spermatogenesis associated 1

Synonyms

Gcl, mglc-1, 2810049L19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86691768-86733383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86704538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 391 (N391K)

Ref Sequence

ENSEMBL: ENSMUSP00000001185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001185]

AlphaFold

Q920G9

Predicted Effect

probably benign
Transcript: ENSMUST00000001185
AA Change: N391K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: N391K

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
low complexity region	63	75	N/A	INTRINSIC
BTB	106	206	3.76e-11	SMART
BACK	211	298	3.6e-3	SMART

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired nuclear membrane integrity in liver, endocrine pancreas, and testis. Mutant males show reduced fertility with decreased chromatin condensation and morphologically abnormal sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316 (GRCm38)	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782 (GRCm38)	L334*	probably null	Het
Adam28	A	T	14: 68,634,876 (GRCm38)	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312 (GRCm38)	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636 (GRCm38)	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460 (GRCm38)	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686 (GRCm38)	C295*	probably null	Het
Amn1	G	T	6: 149,170,859 (GRCm38)	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549 (GRCm38)	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179 (GRCm38)	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978 (GRCm38)	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292 (GRCm38)	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106 (GRCm38)	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476 (GRCm38)	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079 (GRCm38)	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872 (GRCm38)	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820 (GRCm38)	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791 (GRCm38)	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474 (GRCm38)	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644 (GRCm38)	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522 (GRCm38)		probably null	Het
Dock1	A	G	7: 135,152,300 (GRCm38)	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339 (GRCm38)	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489 (GRCm38)	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810 (GRCm38)	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314 (GRCm38)	V268M		Het
Gart	A	G	16: 91,636,538 (GRCm38)	F289S	probably damaging	Het
Greb1l	G	T	18: 10,533,032 (GRCm38)	Q975H	probably benign	Het
Greb1l	A	C	18: 10,533,031 (GRCm38)	Q975P	probably damaging	Het
Grik5	C	A	7: 25,010,694 (GRCm38)	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057 (GRCm38)	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852 (GRCm38)	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954 (GRCm38)	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872 (GRCm38)	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170 (GRCm38)	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173 (GRCm38)	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114 (GRCm38)	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321 (GRCm38)		probably benign	Het
Lamp3	G	T	16: 19,673,460 (GRCm38)	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794 (GRCm38)	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417 (GRCm38)	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673 (GRCm38)	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254 (GRCm38)	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976 (GRCm38)	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834 (GRCm38)	H3217L	possibly damaging	Het
Olfr1532-ps1	C	T	7: 106,914,929 (GRCm38)	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842 (GRCm38)	I206V	probably benign	Het
Or10ak7	A	G	4: 118,934,626 (GRCm38)	M74T	probably benign	Het
Or13j1	A	G	4: 43,706,464 (GRCm38)	Y35H	probably damaging	Het
Or5l14	C	T	2: 87,962,458 (GRCm38)	V145M	possibly damaging	Het
P4ha1	G	T	10: 59,350,472 (GRCm38)	A258S	probably benign	Het
Parn	T	C	16: 13,607,281 (GRCm38)	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308 (GRCm38)	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756 (GRCm38)		probably null	Het
Pcsk1	A	T	13: 75,112,650 (GRCm38)	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022 (GRCm38)	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801 (GRCm38)	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469 (GRCm38)	Q1119K		Het
Prr30	T	A	14: 101,198,935 (GRCm38)	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370 (GRCm38)	N111S	probably benign	Het
Reck	G	A	4: 43,895,850 (GRCm38)	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397 (GRCm38)	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779 (GRCm38)	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038 (GRCm38)	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382 (GRCm38)	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449 (GRCm38)	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320 (GRCm38)	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783 (GRCm38)		probably null	Het
St8sia1	C	T	6: 142,829,252 (GRCm38)	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502 (GRCm38)	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857 (GRCm38)	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880 (GRCm38)	R876S	unknown	Het
Thap12	G	T	7: 98,715,038 (GRCm38)	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614 (GRCm38)		probably null	Het
Traf4	G	A	11: 78,161,534 (GRCm38)	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598 (GRCm38)		probably null	Het
Usp20	G	A	2: 31,017,486 (GRCm38)	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316 (GRCm38)		probably benign	Het
Vmn1r21	T	C	6: 57,844,322 (GRCm38)	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742 (GRCm38)	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003 (GRCm38)	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757 (GRCm38)	H1141R	probably benign	Het

Other mutations in Gmcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02015:Gmcl1	APN	6	86,707,457 (GRCm38)	missense	possibly damaging	0.52
IGL03354:Gmcl1	APN	6	86,726,158 (GRCm38)	missense	probably damaging	1.00
R0149:Gmcl1	UTSW	6	86,732,909 (GRCm38)	critical splice donor site	probably null
R1398:Gmcl1	UTSW	6	86,714,262 (GRCm38)	splice site	probably benign
R1869:Gmcl1	UTSW	6	86,697,516 (GRCm38)	missense	probably benign	0.20
R1871:Gmcl1	UTSW	6	86,697,516 (GRCm38)	missense	probably benign	0.20
R2851:Gmcl1	UTSW	6	86,726,177 (GRCm38)	missense	probably damaging	0.99
R4584:Gmcl1	UTSW	6	86,722,623 (GRCm38)	missense	probably damaging	1.00
R4585:Gmcl1	UTSW	6	86,722,623 (GRCm38)	missense	probably damaging	1.00
R4664:Gmcl1	UTSW	6	86,732,998 (GRCm38)	missense	probably benign	0.30
R4851:Gmcl1	UTSW	6	86,704,556 (GRCm38)	missense	possibly damaging	0.64
R4957:Gmcl1	UTSW	6	86,710,521 (GRCm38)	missense	probably damaging	1.00
R5326:Gmcl1	UTSW	6	86,726,145 (GRCm38)	missense	possibly damaging	0.96
R5482:Gmcl1	UTSW	6	86,718,073 (GRCm38)	missense	probably damaging	1.00
R5496:Gmcl1	UTSW	6	86,697,525 (GRCm38)	missense	probably damaging	0.97
R5817:Gmcl1	UTSW	6	86,714,248 (GRCm38)	missense	probably damaging	1.00
R5854:Gmcl1	UTSW	6	86,714,259 (GRCm38)	splice site	silent
R5891:Gmcl1	UTSW	6	86,707,443 (GRCm38)	missense	probably damaging	1.00
R5895:Gmcl1	UTSW	6	86,711,614 (GRCm38)	missense	probably benign	0.03
R6012:Gmcl1	UTSW	6	86,721,412 (GRCm38)	missense	probably damaging	1.00
R6257:Gmcl1	UTSW	6	86,700,641 (GRCm38)	missense	possibly damaging	0.82
R7693:Gmcl1	UTSW	6	86,714,257 (GRCm38)	missense	probably benign	0.10
R7698:Gmcl1	UTSW	6	86,707,415 (GRCm38)	missense	probably benign	0.00
R7999:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8049:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8093:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8109:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8110:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8111:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8154:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8157:Gmcl1	UTSW	6	86,721,426 (GRCm38)	missense	probably damaging	1.00
R8208:Gmcl1	UTSW	6	86,721,399 (GRCm38)	missense	probably damaging	0.99
R8250:Gmcl1	UTSW	6	86,721,402 (GRCm38)	missense	possibly damaging	0.72
R8509:Gmcl1	UTSW	6	86,722,607 (GRCm38)	missense	probably damaging	1.00
R9264:Gmcl1	UTSW	6	86,714,213 (GRCm38)	missense	probably benign	0.25
R9308:Gmcl1	UTSW	6	86,714,257 (GRCm38)	missense	possibly damaging	0.87
R9350:Gmcl1	UTSW	6	86,700,587 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAGTCTGGTCATCAGGAGC -3'
(R):5'- GGGCCTAACAGATTACTTTATCCC -3'

Sequencing Primer
(F):5'- CGCTGTGCTTCAACCACTTTAAAAAG -3'
(R):5'- ACTTTATCCCAGTAAGAGTGCTC -3'

Posted On

2019-06-07