Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Txnl4b'

272316

Institutional Source

Beutler Lab

Gene Symbol

Txnl4b

Ensembl Gene

ENSMUSG00000031723

Gene Name

thioredoxin-like 4B

Synonyms

Dim2, D530025J19Rik

MMRRC Submission

040754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110292524-110300683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110299409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 123 (A123V)

Ref Sequence

ENSEMBL: ENSMUSP00000137524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000074898] [ENSMUST00000178445]

AlphaFold

Q8BUH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034159
AA Change: A123V

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

SMART Domains

Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723
AA Change: A123V

Domain	Start	End	E-Value	Type
Pfam:DIM1	4	136	1.6e-58	PFAM
Pfam:Thioredoxin	6	109	3.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074898

SMART Domains

Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722

Domain	Start	End	E-Value	Type
CCP	33	86	2.9e0	SMART
Tryp_SPc	102	340	4.38e-48	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178445
AA Change: A123V

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

SMART Domains

Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723
AA Change: A123V

Domain	Start	End	E-Value	Type
Pfam:DIM1	4	136	1.2e-58	PFAM
Pfam:Thioredoxin	6	110	2.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212918

Meta Mutation Damage Score

0.6654

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het

Other mutations in Txnl4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Txnl4b	APN	8	110,295,707 (GRCm39)	missense	probably benign	0.00
IGL02817:Txnl4b	APN	8	110,299,478 (GRCm39)	missense	probably damaging	1.00
rumpled	UTSW	8	110,295,735 (GRCm39)	splice site	probably null
R0504:Txnl4b	UTSW	8	110,298,103 (GRCm39)	missense	probably benign	0.10
R2233:Txnl4b	UTSW	8	110,295,551 (GRCm39)	start gained	probably benign
R3785:Txnl4b	UTSW	8	110,299,409 (GRCm39)	missense	probably damaging	1.00
R4173:Txnl4b	UTSW	8	110,295,706 (GRCm39)	missense	probably benign	0.01
R6278:Txnl4b	UTSW	8	110,295,735 (GRCm39)	splice site	probably null
R8463:Txnl4b	UTSW	8	110,299,430 (GRCm39)	missense	possibly damaging	0.92
R8895:Txnl4b	UTSW	8	110,299,467 (GRCm39)	nonsense	probably null
R9314:Txnl4b	UTSW	8	110,299,331 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTAGACCTGCGGAAAAGG -3'
(R):5'- CAGGCAGTGAACATGTCTCTG -3'

Sequencing Primer
(F):5'- TCAGGCCATGTGTAGAGAGAC -3'
(R):5'- GTGAACATGTCTCTGAAGGACTCC -3'

Posted On

2015-03-25