Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Gmcl1'

432344

Institutional Source

Beutler Lab

Gene Symbol

Gmcl1

Ensembl Gene

ENSMUSG00000001157

Gene Name

germ cell-less, spermatogenesis associated 1

Synonyms

mglc-1, Gcl, 2810049L19Rik, Btbd13

MMRRC Submission

043057-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86668750-86710365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86674507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 457 (A457D)

Ref Sequence

ENSEMBL: ENSMUSP00000001185 (fasta)

Gene Model

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

AlphaFold

Q920G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000001185
AA Change: A457D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: A457D

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: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,724,818 (GRCm39)	V84I	probably benign	Het
Adam10	T	G	9: 70,630,021 (GRCm39)	F151C	probably damaging	Het
Akap6	A	G	12: 53,187,436 (GRCm39)	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,683,911 (GRCm39)	T524A	probably benign	Het
Bicra	C	T	7: 15,721,766 (GRCm39)	V584I	probably benign	Het
Carmil1	G	A	13: 24,339,433 (GRCm39)	R54C	probably damaging	Het
Cbln1	A	G	8: 88,198,324 (GRCm39)	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,592,217 (GRCm39)	V40A	probably benign	Het
Cdh20	T	A	1: 109,976,647 (GRCm39)	I104N	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cfap91	A	G	16: 38,141,855 (GRCm39)	I359T	probably damaging	Het
Col12a1	A	G	9: 79,509,467 (GRCm39)		probably benign	Het
Csf2rb	A	G	15: 78,224,761 (GRCm39)	E173G	probably damaging	Het
Cyb561	A	G	11: 105,828,545 (GRCm39)	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,404,341 (GRCm39)	K34M	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah7a	T	G	1: 53,496,927 (GRCm39)	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,695,956 (GRCm39)	E434G	probably damaging	Het
Ebag9	T	G	15: 44,503,816 (GRCm39)	*214E	probably null	Het
Egln3	A	T	12: 54,250,110 (GRCm39)	W80R	probably damaging	Het
Eps15l1	A	G	8: 73,136,619 (GRCm39)	Y336H	probably benign	Het
Gak	A	G	5: 108,724,483 (GRCm39)	S1076P	probably benign	Het
Glra1	T	C	11: 55,418,241 (GRCm39)	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,620,945 (GRCm39)	M108K	probably damaging	Het
Gm3604	A	T	13: 62,519,393 (GRCm39)	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,438,614 (GRCm39)		probably benign	Het
H2-M11	T	C	17: 36,858,871 (GRCm39)	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,172,140 (GRCm39)	W3S	probably damaging	Het
Il22	T	G	10: 118,041,002 (GRCm39)	V36G	possibly damaging	Het
Ints1	G	A	5: 139,740,953 (GRCm39)	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,766,561 (GRCm39)	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,516,797 (GRCm39)	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,804,568 (GRCm39)	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,620,202 (GRCm39)	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,922,245 (GRCm39)	D948G	probably benign	Het
Krba1	A	G	6: 48,383,290 (GRCm39)	T229A	possibly damaging	Het
Leprot	T	A	4: 101,515,093 (GRCm39)	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,817,985 (GRCm39)	D2415G	probably benign	Het
Mnd1	T	A	3: 83,995,481 (GRCm39)	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,825,553 (GRCm39)	Y339*	probably null	Het
Nfatc2	G	A	2: 168,378,198 (GRCm39)	T268M	probably damaging	Het
Or14j10	T	C	17: 37,935,469 (GRCm39)	D19G	probably benign	Het
Or52d3	G	C	7: 104,229,701 (GRCm39)	A283P	probably damaging	Het
Or8h7	G	T	2: 86,720,658 (GRCm39)	P287Q	probably damaging	Het
Or8h7	G	C	2: 86,720,659 (GRCm39)	P287A	probably damaging	Het
Pan3	G	A	5: 147,463,938 (GRCm39)		probably null	Het
Pde6a	A	T	18: 61,386,736 (GRCm39)		probably null	Het
Prss39	T	C	1: 34,539,342 (GRCm39)	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,709,507 (GRCm39)	S507G	probably benign	Het
Rif1	T	C	2: 51,988,928 (GRCm39)	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smurf1	C	A	5: 144,819,403 (GRCm39)	E601*	probably null	Het
Stau2	T	C	1: 16,460,245 (GRCm39)	S231G	probably damaging	Het
Timp2	T	G	11: 118,194,707 (GRCm39)	M161L	probably benign	Het
Tlr5	T	C	1: 182,801,197 (GRCm39)	L167P	probably damaging	Het
Trhr	G	A	15: 44,060,932 (GRCm39)	A151T	probably benign	Het
Unc13d	A	G	11: 115,957,534 (GRCm39)	V807A	probably damaging	Het
Usp2	T	C	9: 43,996,505 (GRCm39)	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zan	A	G	5: 137,434,607 (GRCm39)	I2232T	unknown	Het
Zfp12	C	A	5: 143,230,550 (GRCm39)	C292*	probably null	Het
Zfp850	A	C	7: 27,706,771 (GRCm39)	M43R	probably damaging	Het
Zic5	G	A	14: 122,696,755 (GRCm39)	T620M	unknown	Het

Other mutations in Gmcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02015:Gmcl1	APN	6	86,684,439 (GRCm39)	missense	possibly damaging	0.52
IGL03354:Gmcl1	APN	6	86,703,140 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Gmcl1	UTSW	6	86,681,520 (GRCm39)	missense	probably benign	0.09
R0149:Gmcl1	UTSW	6	86,709,891 (GRCm39)	critical splice donor site	probably null
R1398:Gmcl1	UTSW	6	86,691,244 (GRCm39)	splice site	probably benign
R1869:Gmcl1	UTSW	6	86,674,498 (GRCm39)	missense	probably benign	0.20
R1871:Gmcl1	UTSW	6	86,674,498 (GRCm39)	missense	probably benign	0.20
R2851:Gmcl1	UTSW	6	86,703,159 (GRCm39)	missense	probably damaging	0.99
R4584:Gmcl1	UTSW	6	86,699,605 (GRCm39)	missense	probably damaging	1.00
R4585:Gmcl1	UTSW	6	86,699,605 (GRCm39)	missense	probably damaging	1.00
R4664:Gmcl1	UTSW	6	86,709,980 (GRCm39)	missense	probably benign	0.30
R4851:Gmcl1	UTSW	6	86,681,538 (GRCm39)	missense	possibly damaging	0.64
R4957:Gmcl1	UTSW	6	86,687,503 (GRCm39)	missense	probably damaging	1.00
R5326:Gmcl1	UTSW	6	86,703,127 (GRCm39)	missense	possibly damaging	0.96
R5482:Gmcl1	UTSW	6	86,695,055 (GRCm39)	missense	probably damaging	1.00
R5817:Gmcl1	UTSW	6	86,691,230 (GRCm39)	missense	probably damaging	1.00
R5854:Gmcl1	UTSW	6	86,691,241 (GRCm39)	splice site	silent
R5891:Gmcl1	UTSW	6	86,684,425 (GRCm39)	missense	probably damaging	1.00
R5895:Gmcl1	UTSW	6	86,688,596 (GRCm39)	missense	probably benign	0.03
R6012:Gmcl1	UTSW	6	86,698,394 (GRCm39)	missense	probably damaging	1.00
R6257:Gmcl1	UTSW	6	86,677,623 (GRCm39)	missense	possibly damaging	0.82
R7693:Gmcl1	UTSW	6	86,691,239 (GRCm39)	missense	probably benign	0.10
R7698:Gmcl1	UTSW	6	86,684,397 (GRCm39)	missense	probably benign	0.00
R7999:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8049:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8093:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8109:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8110:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8111:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8154:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8157:Gmcl1	UTSW	6	86,698,408 (GRCm39)	missense	probably damaging	1.00
R8208:Gmcl1	UTSW	6	86,698,381 (GRCm39)	missense	probably damaging	0.99
R8250:Gmcl1	UTSW	6	86,698,384 (GRCm39)	missense	possibly damaging	0.72
R8509:Gmcl1	UTSW	6	86,699,589 (GRCm39)	missense	probably damaging	1.00
R9264:Gmcl1	UTSW	6	86,691,195 (GRCm39)	missense	probably benign	0.25
R9308:Gmcl1	UTSW	6	86,691,239 (GRCm39)	missense	possibly damaging	0.87
R9350:Gmcl1	UTSW	6	86,677,569 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTTAGGAGCATCAGAGACTGC -3'
(R):5'- CCCTTTAAGGCCCTTTACAAAG -3'

Sequencing Primer
(F):5'- TAGGAGCATCAGAGACTGCAAACAC -3'
(R):5'- AAAGGACTCACTTTCTGCGG -3'

Posted On

2016-10-05