Mutagenetix > Incidental Mutation

Incidental Mutation 'R0948:Txnl1'

81735

Institutional Source

Beutler Lab

Gene Symbol

Txnl1

Ensembl Gene

ENSMUSG00000024583

Gene Name

thioredoxin-like 1

Synonyms

TRP32, 32kDa

MMRRC Submission

039087-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R0948 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

63795872-63825535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63825191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 18 (S18R)

Ref Sequence

ENSEMBL: ENSMUSP00000025476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025476]

AlphaFold

Q8CDN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025476
AA Change: S18R

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025476
Gene: ENSMUSG00000024583
AA Change: S18R

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	6	106	5.8e-19	PFAM
Pfam:PITH	126	268	1.8e-44	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	C	T	19: 8,867,390 (GRCm39)	T63M	probably damaging	Het
Abcb1a	T	A	5: 8,790,621 (GRCm39)		probably null	Het
Ahrr	T	C	13: 74,361,888 (GRCm39)	D537G	probably damaging	Het
Anxa4	T	A	6: 86,718,913 (GRCm39)	I269F	probably damaging	Het
Aoc1l1	A	G	6: 48,953,278 (GRCm39)	Y401C	probably damaging	Het
Atm	A	T	9: 53,407,258 (GRCm39)	M1160K	probably benign	Het
Ccdc175	A	G	12: 72,177,897 (GRCm39)	Y434H	probably damaging	Het
Col19a1	C	T	1: 24,335,882 (GRCm39)	A855T	probably damaging	Het
Cyp2a4	A	G	7: 26,010,213 (GRCm39)	D246G	probably damaging	Het
Dmbt1	T	C	7: 130,694,847 (GRCm39)	L840P	possibly damaging	Het
Dock6	A	T	9: 21,712,829 (GRCm39)	D2009E	probably damaging	Het
E2f3	C	T	13: 30,169,516 (GRCm39)	A46T	probably damaging	Het
Ect2l	A	T	10: 18,016,334 (GRCm39)	C635S	probably damaging	Het
Fer1l6	A	G	15: 58,435,924 (GRCm39)	D439G	probably benign	Het
Hao1	A	C	2: 134,372,693 (GRCm39)	M105R	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igsf10	A	G	3: 59,238,525 (GRCm39)	I552T	probably damaging	Het
Il31ra	A	G	13: 112,666,912 (GRCm39)	S470P	possibly damaging	Het
Mfsd1	A	G	3: 67,504,067 (GRCm39)	N353S	possibly damaging	Het
Mga	T	A	2: 119,772,140 (GRCm39)	F1667I	possibly damaging	Het
Niban2	A	G	2: 32,812,872 (GRCm39)	Y480C	probably damaging	Het
Nwd2	T	C	5: 63,964,655 (GRCm39)	V1413A	probably damaging	Het
Or8b1	T	G	9: 38,400,244 (GRCm39)	S306R	probably benign	Het
Or8b50	G	A	9: 38,517,787 (GRCm39)	V9I	possibly damaging	Het
Osbpl10	T	A	9: 114,996,187 (GRCm39)	V119E	probably damaging	Het
Plec	C	A	15: 76,089,887 (GRCm39)	R151L	probably benign	Het
Ptpn12	T	C	5: 21,203,041 (GRCm39)	H579R	probably benign	Het
Rnase4	G	T	14: 51,342,362 (GRCm39)	G29C	probably damaging	Het
Sim1	C	A	10: 50,857,423 (GRCm39)	S391*	probably null	Het
Sobp	A	T	10: 42,898,205 (GRCm39)	I460N	probably damaging	Het
Spns3	A	T	11: 72,436,766 (GRCm39)	D75E	probably damaging	Het
Strn4	T	A	7: 16,571,638 (GRCm39)	C26*	probably null	Het
Tacstd2	T	A	6: 67,512,102 (GRCm39)	I197L	probably damaging	Het
Trpc6	A	G	9: 8,610,416 (GRCm39)	T295A	possibly damaging	Het
U2surp	A	G	9: 95,343,550 (GRCm39)		probably benign	Het
Ube2frt	A	T	12: 36,140,934 (GRCm39)		probably benign	Het
Vwce	A	G	19: 10,630,441 (GRCm39)	Y500C	probably damaging	Het
Wdr49	A	C	3: 75,358,158 (GRCm39)	S196A	probably benign	Het
Wfs1	T	C	5: 37,124,905 (GRCm39)	Y662C	probably damaging	Het
Wnt8b	A	C	19: 44,498,968 (GRCm39)	D133A	possibly damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp532	C	A	18: 65,756,889 (GRCm39)	A274E	probably damaging	Het
Zfp74	A	G	7: 29,635,362 (GRCm39)		probably null	Het

Other mutations in Txnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Txnl1	APN	18	63,807,262 (GRCm39)	missense	probably damaging	0.98
IGL02380:Txnl1	APN	18	63,807,114 (GRCm39)	splice site	probably null
R0631:Txnl1	UTSW	18	63,804,644 (GRCm39)	splice site	probably benign
R0638:Txnl1	UTSW	18	63,825,135 (GRCm39)	splice site	probably benign
R1233:Txnl1	UTSW	18	63,808,539 (GRCm39)	missense	probably benign
R1990:Txnl1	UTSW	18	63,812,585 (GRCm39)	missense	probably benign
R1991:Txnl1	UTSW	18	63,812,585 (GRCm39)	missense	probably benign
R1992:Txnl1	UTSW	18	63,812,585 (GRCm39)	missense	probably benign
R2308:Txnl1	UTSW	18	63,804,691 (GRCm39)	missense	probably benign	0.38
R2979:Txnl1	UTSW	18	63,804,691 (GRCm39)	missense	probably benign	0.38
R4321:Txnl1	UTSW	18	63,812,561 (GRCm39)	missense	possibly damaging	0.63
R4352:Txnl1	UTSW	18	63,804,750 (GRCm39)	missense	possibly damaging	0.66
R4691:Txnl1	UTSW	18	63,804,750 (GRCm39)	missense	possibly damaging	0.66
R5218:Txnl1	UTSW	18	63,812,538 (GRCm39)	missense	probably benign	0.45
R5471:Txnl1	UTSW	18	63,809,997 (GRCm39)	missense	probably damaging	1.00
R5586:Txnl1	UTSW	18	63,797,396 (GRCm39)	missense	probably damaging	1.00
R7174:Txnl1	UTSW	18	63,804,667 (GRCm39)	missense	probably benign	0.06
R9273:Txnl1	UTSW	18	63,825,325 (GRCm39)	start gained	probably benign
R9308:Txnl1	UTSW	18	63,812,446 (GRCm39)	missense	probably benign	0.02
R9461:Txnl1	UTSW	18	63,810,050 (GRCm39)	missense	probably benign	0.00
X0026:Txnl1	UTSW	18	63,807,140 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGATTTTAAACTCGGCGGGCG -3'
(R):5'- GCAATTTCAGAAGCACAGCGGC -3'

Sequencing Primer
(F):5'- AGGAAGCCCCTTCTGCAC -3'
(R):5'- GGAATCGACAGCCATCGC -3'

Posted On

2013-11-08