Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Tex2'

672157

Institutional Source

Beutler Lab

Gene Symbol

Tex2

Ensembl Gene

ENSMUSG00000040548

Gene Name

testis expressed gene 2

Synonyms

4930568E07Rik, Taz4, Def-5

MMRRC Submission

068643-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106392973-106504249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106435194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 744 (H744L)

Ref Sequence

ENSEMBL: ENSMUSP00000041985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042780] [ENSMUST00000103070]

AlphaFold

Q6ZPJ0

Predicted Effect

unknown
Transcript: ENSMUST00000042780
AA Change: H744L

SMART Domains

Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: H744L

Domain	Start	End	E-Value	Type
low complexity region	119	186	N/A	INTRINSIC
low complexity region	319	341	N/A	INTRINSIC
low complexity region	346	360	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	494	516	N/A	INTRINSIC
PH	543	712	5.05e-1	SMART
low complexity region	732	752	N/A	INTRINSIC
low complexity region	811	823	N/A	INTRINSIC
low complexity region	946	965	N/A	INTRINSIC
low complexity region	1003	1016	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000103070
AA Change: H744L

SMART Domains

Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: H744L

Domain	Start	End	E-Value	Type
low complexity region	119	186	N/A	INTRINSIC
low complexity region	319	341	N/A	INTRINSIC
low complexity region	346	360	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	494	516	N/A	INTRINSIC
PH	543	712	5.05e-1	SMART
low complexity region	732	752	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	C	5: 48,534,494 (GRCm39)	I118T	probably damaging	Het
Abca8a	A	T	11: 109,974,252 (GRCm39)	F227L	probably benign	Het
Abcc6	A	T	7: 45,648,431 (GRCm39)	I687N	possibly damaging	Het
Akain1	T	C	17: 69,794,340 (GRCm39)	*70Q	probably null	Het
Allc	C	T	12: 28,615,489 (GRCm39)	G89S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,188 (GRCm39)	F399L	probably benign	Het
Artn	A	T	4: 117,783,915 (GRCm39)	S184T	possibly damaging	Het
B3galt9	A	T	2: 34,728,818 (GRCm39)	I206F	probably damaging	Het
Bcl2a1c	A	T	9: 114,159,248 (GRCm39)	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,472,452 (GRCm39)	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,708,303 (GRCm39)	E98K	probably benign	Het
Cdcp3	A	T	7: 130,846,507 (GRCm39)	I644F	probably damaging	Het
Cdr2l	A	T	11: 115,284,741 (GRCm39)	Q359L	probably damaging	Het
Cmip	C	T	8: 118,138,094 (GRCm39)	T103M	probably benign	Het
Dcaf1	A	G	9: 106,742,268 (GRCm39)	T1358A	probably benign	Het
Dedd2	C	T	7: 24,910,705 (GRCm39)	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,982,499 (GRCm39)	V9A	probably damaging	Het
Dop1b	T	A	16: 93,558,973 (GRCm39)	V573E	probably benign	Het
Eef2k	A	T	7: 120,490,930 (GRCm39)	I517F	possibly damaging	Het
En1	T	C	1: 120,531,090 (GRCm39)	F110S	possibly damaging	Het
Evpl	T	A	11: 116,111,853 (GRCm39)	I1946F	probably damaging	Het
Gaa	A	T	11: 119,168,393 (GRCm39)	M502L	probably benign	Het
Gfer	C	T	17: 24,914,846 (GRCm39)	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,673,213 (GRCm39)	T37A	probably benign	Het
Grm3	C	T	5: 9,561,499 (GRCm39)	A784T	probably damaging	Het
H3c8	A	G	13: 23,719,628 (GRCm39)	K5E	probably benign	Het
Helz	C	G	11: 107,493,835 (GRCm39)	S277C	probably damaging	Het
Henmt1	T	G	3: 108,867,652 (GRCm39)	*396G	probably null	Het
Hfe	C	T	13: 23,889,667 (GRCm39)	V327I	probably benign	Het
Hoxd8	A	T	2: 74,536,313 (GRCm39)	Q141L	probably damaging	Het
Hspa12b	T	G	2: 130,987,103 (GRCm39)	S675A	probably benign	Het
Ifi214	G	A	1: 173,354,133 (GRCm39)	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,625,404 (GRCm39)	Y113F	possibly damaging	Het
Lca5l	T	A	16: 95,979,808 (GRCm39)	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,770,843 (GRCm39)	P257S	probably benign	Het
Loxhd1	C	T	18: 77,444,468 (GRCm39)	T608I	possibly damaging	Het
Lpl	C	A	8: 69,345,280 (GRCm39)	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,473,732 (GRCm39)	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,438,056 (GRCm39)	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,697,706 (GRCm39)		probably benign	Het
Mpo	T	C	11: 87,687,165 (GRCm39)	I237T	probably benign	Het
Mrpl41	A	G	2: 24,864,878 (GRCm39)	W6R	unknown	Het
Muc16	T	A	9: 18,567,353 (GRCm39)	H1722L	unknown	Het
Mug1	A	C	6: 121,851,434 (GRCm39)	D777A	probably benign	Het
Myh1	A	T	11: 67,111,354 (GRCm39)	I1598F	probably benign	Het
Myo1f	C	T	17: 33,794,879 (GRCm39)	R40C	probably damaging	Het
Myo6	G	A	9: 80,207,949 (GRCm39)		probably null	Het
Nbeal2	G	T	9: 110,458,707 (GRCm39)	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,211,282 (GRCm39)	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,167,990 (GRCm39)	L89Q	probably damaging	Het
Nup205	T	C	6: 35,160,904 (GRCm39)	F103S	probably damaging	Het
Obscn	C	A	11: 58,970,470 (GRCm39)	V2379F	probably damaging	Het
Or5m8	A	T	2: 85,823,172 (GRCm39)	*337L	probably null	Het
Or5p62	A	T	7: 107,771,852 (GRCm39)	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,517,584 (GRCm39)	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,213,229 (GRCm39)	D6N	probably damaging	Het
Rsph1	T	A	17: 31,484,828 (GRCm39)	H154L	probably damaging	Het
Sdk1	G	A	5: 142,071,382 (GRCm39)	V1191M	probably damaging	Het
Selenos	T	A	7: 65,729,467 (GRCm39)	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,868 (GRCm39)	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,469,930 (GRCm39)	S144P	probably damaging	Het
Sh3d19	T	C	3: 85,992,659 (GRCm39)	V229A	probably benign	Het
Sin3b	C	T	8: 73,476,708 (GRCm39)	A714V	probably benign	Het
Slitrk6	T	A	14: 110,988,123 (GRCm39)	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,535,932 (GRCm39)	L4063H	probably damaging	Het
Stard9	A	C	2: 120,535,943 (GRCm39)	K4067Q	probably damaging	Het
Terb1	A	G	8: 105,195,741 (GRCm39)		probably null	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trhr	A	T	15: 44,061,212 (GRCm39)	N244I	probably benign	Het
Ttn	G	A	2: 76,582,409 (GRCm39)	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,833,601 (GRCm39)		probably benign	Het
Uroc1	A	T	6: 90,328,110 (GRCm39)	I529F	probably damaging	Het
Vps13c	G	T	9: 67,766,122 (GRCm39)	V80F	probably damaging	Het
Wnt1	T	A	15: 98,690,645 (GRCm39)	C325S	probably damaging	Het

Other mutations in Tex2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Tex2	APN	11	106,459,361 (GRCm39)	missense	probably damaging	1.00
IGL01380:Tex2	APN	11	106,435,141 (GRCm39)	nonsense	probably null
IGL02607:Tex2	APN	11	106,437,573 (GRCm39)	missense	unknown
IGL02680:Tex2	APN	11	106,459,058 (GRCm39)	unclassified	probably benign
IGL02699:Tex2	APN	11	106,459,259 (GRCm39)	missense	possibly damaging	0.53
IGL03187:Tex2	APN	11	106,458,903 (GRCm39)	unclassified	probably benign
IGL03398:Tex2	APN	11	106,459,098 (GRCm39)	missense	probably damaging	1.00
R0242:Tex2	UTSW	11	106,410,781 (GRCm39)	nonsense	probably null
R0242:Tex2	UTSW	11	106,410,781 (GRCm39)	nonsense	probably null
R1085:Tex2	UTSW	11	106,459,313 (GRCm39)	missense	probably damaging	0.98
R1491:Tex2	UTSW	11	106,394,466 (GRCm39)	missense	possibly damaging	0.72
R1664:Tex2	UTSW	11	106,458,608 (GRCm39)	unclassified	probably benign
R1794:Tex2	UTSW	11	106,458,728 (GRCm39)	unclassified	probably benign
R1855:Tex2	UTSW	11	106,437,702 (GRCm39)	missense	possibly damaging	0.87
R2077:Tex2	UTSW	11	106,397,690 (GRCm39)	splice site	probably null
R2151:Tex2	UTSW	11	106,458,161 (GRCm39)	unclassified	probably benign
R2175:Tex2	UTSW	11	106,394,513 (GRCm39)	missense	unknown
R2984:Tex2	UTSW	11	106,437,489 (GRCm39)	critical splice donor site	probably null
R3156:Tex2	UTSW	11	106,424,695 (GRCm39)	critical splice donor site	probably null
R3722:Tex2	UTSW	11	106,437,566 (GRCm39)	nonsense	probably null
R3724:Tex2	UTSW	11	106,420,156 (GRCm39)	missense	unknown
R3770:Tex2	UTSW	11	106,435,078 (GRCm39)	missense	unknown
R3771:Tex2	UTSW	11	106,437,720 (GRCm39)	missense	unknown
R3813:Tex2	UTSW	11	106,402,770 (GRCm39)	missense	unknown
R3947:Tex2	UTSW	11	106,410,829 (GRCm39)	missense	unknown
R4206:Tex2	UTSW	11	106,458,398 (GRCm39)	unclassified	probably benign
R4342:Tex2	UTSW	11	106,457,832 (GRCm39)	unclassified	probably benign
R4554:Tex2	UTSW	11	106,435,212 (GRCm39)	missense	unknown
R4896:Tex2	UTSW	11	106,459,230 (GRCm39)	missense	probably damaging	1.00
R5207:Tex2	UTSW	11	106,437,666 (GRCm39)	missense	unknown
R5249:Tex2	UTSW	11	106,437,615 (GRCm39)	missense	unknown
R5257:Tex2	UTSW	11	106,458,585 (GRCm39)	unclassified	probably benign
R5258:Tex2	UTSW	11	106,458,585 (GRCm39)	unclassified	probably benign
R5278:Tex2	UTSW	11	106,458,639 (GRCm39)	missense	probably benign	0.34
R5702:Tex2	UTSW	11	106,435,221 (GRCm39)	missense	possibly damaging	0.58
R5835:Tex2	UTSW	11	106,410,739 (GRCm39)	missense	unknown
R6150:Tex2	UTSW	11	106,457,906 (GRCm39)	missense	probably benign	0.34
R6785:Tex2	UTSW	11	106,424,776 (GRCm39)	missense	probably damaging	1.00
R6879:Tex2	UTSW	11	106,424,836 (GRCm39)	missense	unknown
R7038:Tex2	UTSW	11	106,402,726 (GRCm39)	critical splice donor site	probably null
R7117:Tex2	UTSW	11	106,435,071 (GRCm39)	missense	unknown
R7336:Tex2	UTSW	11	106,439,685 (GRCm39)	missense	unknown
R7568:Tex2	UTSW	11	106,439,562 (GRCm39)	missense	unknown
R7622:Tex2	UTSW	11	106,437,721 (GRCm39)	missense	unknown
R8228:Tex2	UTSW	11	106,457,997 (GRCm39)	missense	probably benign	0.34
R8407:Tex2	UTSW	11	106,459,221 (GRCm39)	missense	probably damaging	1.00
R8807:Tex2	UTSW	11	106,458,414 (GRCm39)	missense	unknown
R8882:Tex2	UTSW	11	106,435,062 (GRCm39)	missense	unknown
R8926:Tex2	UTSW	11	106,459,230 (GRCm39)	missense
R8936:Tex2	UTSW	11	106,458,144 (GRCm39)	nonsense	probably null
R8988:Tex2	UTSW	11	106,402,731 (GRCm39)	missense	unknown
R9165:Tex2	UTSW	11	106,458,095 (GRCm39)	missense	unknown
R9294:Tex2	UTSW	11	106,459,361 (GRCm39)	missense	probably damaging	1.00
R9314:Tex2	UTSW	11	106,435,075 (GRCm39)	missense	unknown
R9405:Tex2	UTSW	11	106,435,214 (GRCm39)	missense	unknown
R9419:Tex2	UTSW	11	106,457,835 (GRCm39)	nonsense	probably null
R9477:Tex2	UTSW	11	106,410,706 (GRCm39)	critical splice donor site	probably null
R9626:Tex2	UTSW	11	106,437,579 (GRCm39)	missense	unknown
R9634:Tex2	UTSW	11	106,458,978 (GRCm39)	missense	unknown
T0970:Tex2	UTSW	11	106,437,772 (GRCm39)	missense	unknown
Z1177:Tex2	UTSW	11	106,424,834 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCTTCTTCGAAGCTGTGGG -3'
(R):5'- CCCATTCCAGAATTACCTTGGAGAAC -3'

Sequencing Primer
(F):5'- TCGAAGCTGTGGGGCTGC -3'
(R):5'- CAGAAGATATTTTTCAGGGTGAGG -3'

Posted On

2021-04-30