Mutagenetix > Incidental Mutations

Incidental Mutation 'R2281:Thegl'

243121

Institutional Source

Beutler Lab

Gene Symbol

Thegl

Ensembl Gene

ENSMUSG00000029248

Gene Name

theg spermatid protein like

Synonyms

1700023E05Rik

MMRRC Submission

040280-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2281 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77016023-77061529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77059367 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 324 (I324T)

Ref Sequence

ENSEMBL: ENSMUSP00000112814 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031161
AA Change: I324T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: I324T

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 damaging
Transcript: ENSMUST00000117880
AA Change: I324T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: I324T

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,646,424	L228S	probably damaging	Het
Abca13	A	T	11: 9,328,136	K3105N	probably damaging	Het
Abca3	T	A	17: 24,376,726	L351Q	possibly damaging	Het
Acadm	A	G	3: 153,933,043	I231T	possibly damaging	Het
Adamts4	A	T	1: 171,256,229	Q456L	probably damaging	Het
Adgra3	C	T	5: 50,001,880	V343I	probably benign	Het
Ajuba	C	A	14: 54,577,188	G26V	probably damaging	Het
Aldh1a1	A	G	19: 20,620,091	I145M	possibly damaging	Het
Ankrd42	G	A	7: 92,625,773	Q110*	probably null	Het
Ano3	T	A	2: 110,682,759	E630D	probably benign	Het
Ap3d1	T	C	10: 80,713,998	D771G	probably damaging	Het
Arhgap30	A	G	1: 171,389,328	D21G	probably damaging	Het
Atg13	T	C	2: 91,679,425	N374S	probably benign	Het
Ccser1	A	T	6: 61,570,815	M49L	probably damaging	Het
Cdh5	A	G	8: 104,125,733	E160G	probably damaging	Het
Cpd	T	C	11: 76,797,801	K882E	probably benign	Het
Crtac1	G	A	19: 42,283,567	L646F	unknown	Het
Cyp27b1	T	G	10: 127,048,294	V5G	probably damaging	Het
Dcaf11	G	T	14: 55,569,371	*550Y	probably null	Het
Dhx58	A	G	11: 100,698,154		probably null	Het
Dlg2	T	A	7: 92,438,041	I881N	probably damaging	Het
Ece1	C	T	4: 137,946,362	T407M	possibly damaging	Het
Ecsit	C	T	9: 22,076,540	V68I	possibly damaging	Het
Egln1	T	C	8: 124,948,414	D214G	probably benign	Het
Espn	T	C	4: 152,135,545	T47A	possibly damaging	Het
F5	A	G	1: 164,195,720	I1616V	possibly damaging	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fryl	T	C	5: 73,041,364	D2640G	possibly damaging	Het
Gabrg2	T	C	11: 41,976,636	K52R	possibly damaging	Het
Ganab	T	C	19: 8,909,468	V306A	probably damaging	Het
Glod4	A	T	11: 76,237,809	I70N	possibly damaging	Het
Gm8251	T	A	1: 44,056,460	H1826L	possibly damaging	Het
Gsn	T	A	2: 35,283,918	V2E	probably benign	Het
Hist1h1c	A	G	13: 23,738,924	K26E	probably benign	Het
Hrg	C	T	16: 22,961,309		probably benign	Het
Kctd19	T	C	8: 105,387,266	T592A	probably benign	Het
Kdm3b	A	G	18: 34,808,419	D521G	probably damaging	Het
Lrba	A	G	3: 86,776,103	H2744R	possibly damaging	Het
Lsr	C	T	7: 30,958,345	A397T	probably damaging	Het
Methig1	A	T	15: 100,353,360	M51L	possibly damaging	Het
Mga	A	G	2: 119,903,723	I351V	probably benign	Het
Mlf1	G	A	3: 67,399,751	V250I	possibly damaging	Het
Mreg	A	T	1: 72,192,064	N78K	probably damaging	Het
Mtor	A	G	4: 148,489,555	D1294G	probably benign	Het
Nfkb1	T	C	3: 135,601,521	I548V	probably damaging	Het
Nlrp3	T	C	11: 59,549,136	F513S	possibly damaging	Het
Nphp4	A	G	4: 152,557,043	K1094E	possibly damaging	Het
Nr3c2	C	A	8: 76,909,907	H546N	probably damaging	Het
Nr4a2	T	A	2: 57,112,199	M18L	probably benign	Het
Olfr1214	G	A	2: 88,987,470	T244I	probably benign	Het
Olfr1392	A	C	11: 49,293,632	T104P	probably benign	Het
Pclo	A	G	5: 14,540,332	N882S	unknown	Het
Pde6a	T	C	18: 61,262,434	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,378,947	Y209F	probably damaging	Het
Plch2	A	T	4: 154,984,309	S1182T	probably damaging	Het
Ptger2	G	T	14: 44,989,650	R229L	probably damaging	Het
Ptpru	C	A	4: 131,808,499	G389V	probably damaging	Het
Ric8a	A	G	7: 140,861,938	N249S	probably benign	Het
Slc26a5	A	G	5: 21,831,510	I266T	possibly damaging	Het
Smyd1	T	C	6: 71,238,676	N100D	probably damaging	Het
Stag3	T	C	5: 138,298,284	F468S	probably damaging	Het
Stk31	C	T	6: 49,417,250	T182I	probably damaging	Het
Svep1	G	T	4: 58,082,677	N1982K	possibly damaging	Het
Tinagl1	A	G	4: 130,166,993	Y344H	probably damaging	Het
Tmem216	T	A	19: 10,551,873	T104S	probably damaging	Het
Tmem231	T	C	8: 111,918,931	D112G	probably damaging	Het
Ube4b	A	G	4: 149,344,572	I870T	probably damaging	Het
Vwa8	T	A	14: 79,064,996	L1035Q	possibly damaging	Het
Wdr35	A	G	12: 8,978,628	Q82R	probably benign	Het
Wnk1	A	T	6: 119,963,640		probably null	Het
Zc3h7a	T	C	16: 11,158,594		probably benign	Het
Zfp532	T	C	18: 65,624,712	V572A	probably damaging	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
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
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
RF063:Thegl	UTSW	5	77016426	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'- AAATCTGTGTATAGCTGGCGTG -3'
(R):5'- TCTGATGACTTTGGCCTAGGC -3'

Sequencing Primer
(F):5'- TGGAACCCGTACAGTCCAGTTTG -3'
(R):5'- CCTTGTGGAGGCAAAACAGCATC -3'

Posted On

2014-10-16