Mutagenetix > Incidental Mutation

Incidental Mutation 'RF063:Thegl'

605456

Institutional Source

Beutler Lab

Gene Symbol

Thegl

Ensembl Gene

ENSMUSG00000029248

Gene Name

theg spermatid protein like

Synonyms

1700023E05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

RF063 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

77016023-77061529 bp(+) (GRCm38)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

CCAG to CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG at 77016426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880]

AlphaFold

Q9DA15

Predicted Effect

probably benign
Transcript: ENSMUST00000031161

SMART Domains

Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
THEG	172	190	4.56e2	SMART
THEG	212	231	5.84e0	SMART
THEG	258	277	3.1e-1	SMART
THEG	291	310	8.37e2	SMART
THEG	327	346	7.65e1	SMART
THEG	367	386	3.61e1	SMART
THEG	403	422	1.15e1	SMART
THEG	440	459	9.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117880

SMART Domains

Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
THEG	172	190	4.56e2	SMART
THEG	212	231	5.84e0	SMART
THEG	258	277	3.1e-1	SMART
THEG	291	310	8.37e2	SMART
THEG	327	346	7.65e1	SMART
THEG	367	386	3.61e1	SMART
THEG	403	422	1.15e1	SMART
THEG	440	459	9.98e0	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,883		probably benign	Het
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,884		probably benign	Het
Abca2	G	T	2: 25,447,397	E2421D	probably damaging	Het
Apc	A	AATAAAGCCC	18: 34,282,009		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,256		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
F11r	CCCCCCCCC	CCCCCCCCCCC	1: 171,461,190		probably benign	Het
Fam171b	C	CAGCAGA	2: 83,812,896		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTACGTGTGCTGGT	5: 110,378,139		probably benign	Het
Fbrsl1	GTGCTGGTG	GTGCTGGTGCGTCTGCTGGTG	5: 110,378,143		probably benign	Het
Iqcf4	TCCTTTT	TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT	9: 106,570,617		probably benign	Het
Iqgap1	AGGCCACCACTGCTCACAGGTGCTGTACCT	A	7: 80,723,751		probably null	Het
Kmt2c	GCT	GCTCCT	5: 25,315,764		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 29,021,443		probably null	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,275,973		probably benign	Het
Rassf6	C	CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA	5: 90,608,942		probably null	Het
Sh3pxd2b	TGTGCC	TGTGCCCGTGCC	11: 32,423,051		probably benign	Het
Sorcs2	ATACATACATACCT	AT	5: 36,153,811		probably null	Het
Sry	TGCTGCTGCTGCTGCTG	T	Y: 2,662,595		probably null	Het
Stard8	GAG	GAGTAG	X: 99,066,524		probably null	Het
Tcof1	GATCCCCTTGGC	GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC	18: 60,833,573		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,801,320		probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGTTGCTGCT	15: 72,801,324		probably benign	Het
Vmn1r74	CAGAGCCACCAAGTACCT	C	7: 11,847,140		probably null	Het

Other mutations in Thegl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Thegl	APN	5	77060831	missense	probably damaging	1.00
IGL02008:Thegl	APN	5	77060758	missense	probably benign	0.01
IGL02014:Thegl	APN	5	77047155	missense	probably damaging	0.99
IGL02525:Thegl	APN	5	77016553	missense	probably benign	0.08
IGL03036:Thegl	APN	5	77016350	missense	possibly damaging	0.86
IGL03200:Thegl	APN	5	77060864	missense	possibly damaging	0.66
IGL03302:Thegl	APN	5	77054576	missense	probably benign	0.09
R0242:Thegl	UTSW	5	77016305	nonsense	probably null
R0242:Thegl	UTSW	5	77016305	nonsense	probably null
R0483:Thegl	UTSW	5	77037357	splice site	probably benign
R1875:Thegl	UTSW	5	77054584	missense	probably benign	0.29
R2121:Thegl	UTSW	5	77060758	missense	probably benign	0.01
R2232:Thegl	UTSW	5	77059405	missense	possibly damaging	0.84
R2280:Thegl	UTSW	5	77059367	missense	probably damaging	1.00
R2281:Thegl	UTSW	5	77059367	missense	probably damaging	1.00
R4422:Thegl	UTSW	5	77054536	missense	possibly damaging	0.91
R4423:Thegl	UTSW	5	77054536	missense	possibly damaging	0.91
R4424:Thegl	UTSW	5	77054536	missense	possibly damaging	0.91
R4935:Thegl	UTSW	5	77037353	critical splice donor site	probably null
R5041:Thegl	UTSW	5	77056081	missense	probably benign	0.05
R5175:Thegl	UTSW	5	77016470	missense	probably benign	0.00
R5560:Thegl	UTSW	5	77016486	missense	possibly damaging	0.61
R6086:Thegl	UTSW	5	77061305	missense	probably benign	0.11
R6193:Thegl	UTSW	5	77016336	missense	possibly damaging	0.85
R7070:Thegl	UTSW	5	77047277	critical splice donor site	probably null
R7453:Thegl	UTSW	5	77060786	missense	probably damaging	1.00
R7703:Thegl	UTSW	5	77016597	missense	probably benign	0.34
R8534:Thegl	UTSW	5	77059478	missense	probably damaging	1.00
R8899:Thegl	UTSW	5	77037353	critical splice donor site	probably null
R9126:Thegl	UTSW	5	77016606	missense	probably damaging	0.96
R9525:Thegl	UTSW	5	77047291	missense	probably benign	0.01
RF007:Thegl	UTSW	5	77016408	small insertion	probably benign
RF010:Thegl	UTSW	5	77016427	small insertion	probably benign
RF014:Thegl	UTSW	5	77016400	small insertion	probably benign
RF016:Thegl	UTSW	5	77016408	small insertion	probably benign
RF020:Thegl	UTSW	5	77016400	small insertion	probably benign
RF028:Thegl	UTSW	5	77016401	small insertion	probably benign
RF030:Thegl	UTSW	5	77016401	small insertion	probably benign
RF031:Thegl	UTSW	5	77016410	small insertion	probably benign
RF033:Thegl	UTSW	5	77016405	small insertion	probably benign
RF033:Thegl	UTSW	5	77016429	small insertion	probably benign
RF036:Thegl	UTSW	5	77016429	small insertion	probably benign
RF037:Thegl	UTSW	5	77016421	small insertion	probably benign
RF039:Thegl	UTSW	5	77016402	small insertion	probably benign
RF044:Thegl	UTSW	5	77016405	small insertion	probably benign
RF046:Thegl	UTSW	5	77016403	small insertion	probably benign
RF055:Thegl	UTSW	5	77016403	small insertion	probably benign
RF060:Thegl	UTSW	5	77016427	small insertion	probably benign
RF064:Thegl	UTSW	5	77016415	small insertion	probably benign
Z1176:Thegl	UTSW	5	77060794	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAGGTTCATCCGTGCGATC -3'
(R):5'- TCTGGCTATCAAAGATGGGGAG -3'

Sequencing Primer
(F):5'- TTCATCCGTGCGATCCGAGG -3'
(R):5'- GGTCATAATCACTGCGTTGGGAAAC -3'

Posted On

2019-12-04