Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Txnl4a'

151690

Institutional Source

Beutler Lab

Gene Symbol

Txnl4a

Ensembl Gene

ENSMUSG00000057130

Gene Name

thioredoxin-like 4A

Synonyms

Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa

MMRRC Submission

039330-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80250041-80269066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80250536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 44 (V44D)

Ref Sequence

ENSEMBL: ENSMUSP00000115320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025463] [ENSMUST00000025464] [ENSMUST00000125127] [ENSMUST00000127234] [ENSMUST00000145963]

AlphaFold

P83877

Predicted Effect

probably benign
Transcript: ENSMUST00000025463

SMART Domains

Protein: ENSMUSP00000025463
Gene: ENSMUSG00000024571

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	32	125	7.1e-8	PFAM
Pfam:Acetyltransf_7	40	130	2e-9	PFAM
Pfam:Acetyltransf_1	46	129	6.1e-18	PFAM
Pfam:FR47	56	137	2.9e-10	PFAM
low complexity region	196	208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025464
AA Change: V44D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
AA Change: V44D

Domain	Start	End	E-Value	Type
Pfam:DIM1	4	93	4.1e-49	PFAM
Pfam:Thioredoxin	8	91	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125127

SMART Domains

Protein: ENSMUSP00000123193
Gene: ENSMUSG00000024571

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	40	129	2.3e-9	PFAM
Pfam:Acetyltransf_1	46	129	1e-17	PFAM
Pfam:FR47	56	137	2.9e-10	PFAM
low complexity region	196	208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126360

Predicted Effect

probably benign
Transcript: ENSMUST00000127234

SMART Domains

Protein: ENSMUSP00000121883
Gene: ENSMUSG00000024571

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	32	125	7.1e-8	PFAM
Pfam:Acetyltransf_7	40	130	2e-9	PFAM
Pfam:Acetyltransf_1	46	129	6.1e-18	PFAM
Pfam:FR47	56	137	2.9e-10	PFAM
low complexity region	196	208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145963
AA Change: V44D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: V44D

Domain	Start	End	E-Value	Type
Pfam:DIM1	4	136	3.4e-73	PFAM
Pfam:Thioredoxin	8	109	3.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156400

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	C	11: 109,832,433 (GRCm39)	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 102,994,677 (GRCm39)		probably null	Het
Atp13a4	T	A	16: 29,290,771 (GRCm39)	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,352,534 (GRCm39)	F132C	probably damaging	Het
Btaf1	A	T	19: 36,933,924 (GRCm39)	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,574,918 (GRCm39)	Y590*	probably null	Het
Chi3l1	G	A	1: 134,116,980 (GRCm39)	E315K	probably benign	Het
Col6a6	T	A	9: 105,586,688 (GRCm39)	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,041,521 (GRCm39)	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,431,908 (GRCm39)	T396A	probably benign	Het
Dnaaf6rt	A	T	1: 31,262,296 (GRCm39)	I93F	probably damaging	Het
Dnah6	A	T	6: 73,121,948 (GRCm39)	I1373N	probably damaging	Het
Dop1b	C	A	16: 93,574,274 (GRCm39)	H1598N	probably benign	Het
Erich4	T	A	7: 25,314,559 (GRCm39)	K118M	probably damaging	Het
Gkap1	A	T	13: 58,403,587 (GRCm39)	V179E	probably benign	Het
Gpr107	T	G	2: 31,068,267 (GRCm39)	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,977,504 (GRCm39)	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,549,602 (GRCm39)	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,987,892 (GRCm39)	H266Q	probably benign	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,567,169 (GRCm39)	T423A	probably benign	Het
Mical3	T	C	6: 120,929,430 (GRCm39)	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 70,987,948 (GRCm39)	I1174T	probably benign	Het
Npas2	C	A	1: 39,373,849 (GRCm39)	Q450K	possibly damaging	Het
Nrp1	T	A	8: 129,194,870 (GRCm39)	I442N	probably damaging	Het
Or1j10	T	A	2: 36,267,006 (GRCm39)	S73T	probably damaging	Het
Or2y1	A	T	11: 49,385,848 (GRCm39)	M163L	probably benign	Het
Palld	TGCGTAGCG	TGCG	8: 61,966,491 (GRCm39)		probably null	Het
Pold3	T	A	7: 99,768,890 (GRCm39)	Q36L	possibly damaging	Het
Polg	T	C	7: 79,109,534 (GRCm39)	T428A	probably benign	Het
Rfx7	T	A	9: 72,484,329 (GRCm39)	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,602,177 (GRCm39)	M1R	probably null	Het
Sanbr	A	T	11: 23,570,278 (GRCm39)	Y207*	probably null	Het
Scn10a	T	A	9: 119,446,799 (GRCm39)	T1410S	probably damaging	Het
Serpinb13	T	A	1: 106,928,466 (GRCm39)	V362E	probably damaging	Het
Setdb1	T	C	3: 95,234,922 (GRCm39)	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,539,470 (GRCm39)	K91R	probably benign	Het
Shprh	A	G	10: 11,035,274 (GRCm39)	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Styxl1	G	T	5: 135,782,737 (GRCm39)	S117R	probably damaging	Het
Synj2	T	C	17: 6,069,634 (GRCm39)	F150L	probably damaging	Het
Tep1	C	A	14: 51,082,970 (GRCm39)	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,778,468 (GRCm39)	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,266,093 (GRCm39)	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,506,762 (GRCm39)	I115F	possibly damaging	Het
Trim38	A	G	13: 23,975,117 (GRCm39)	Y352C	probably damaging	Het
Vars2	A	G	17: 35,972,501 (GRCm39)	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,428,584 (GRCm39)	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,027,667 (GRCm39)	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,315,533 (GRCm39)	Y762C	probably benign	Het
Vps13d	T	A	4: 144,896,918 (GRCm39)	Q334L	probably benign	Het
Zfp277	A	T	12: 40,414,164 (GRCm39)	I227N	probably damaging	Het

Other mutations in Txnl4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Txnl4a	APN	18	80,261,956 (GRCm39)	missense	probably benign	0.02
IGL02349:Txnl4a	APN	18	80,261,944 (GRCm39)	missense	probably damaging	1.00
R1256:Txnl4a	UTSW	18	80,250,487 (GRCm39)	missense	probably benign	0.07
R1381:Txnl4a	UTSW	18	80,250,479 (GRCm39)	missense	probably benign	0.01
R4165:Txnl4a	UTSW	18	80,265,471 (GRCm39)	missense	probably benign	0.28
R4166:Txnl4a	UTSW	18	80,265,471 (GRCm39)	missense	probably benign	0.28
R4836:Txnl4a	UTSW	18	80,265,468 (GRCm39)	missense	probably damaging	1.00
R4903:Txnl4a	UTSW	18	80,250,493 (GRCm39)	missense	probably damaging	0.98
R6026:Txnl4a	UTSW	18	80,250,482 (GRCm39)	missense	probably damaging	0.98
R6275:Txnl4a	UTSW	18	80,261,980 (GRCm39)	missense	possibly damaging	0.82
R8355:Txnl4a	UTSW	18	80,250,539 (GRCm39)	missense	probably damaging	1.00
R8455:Txnl4a	UTSW	18	80,250,539 (GRCm39)	missense	probably damaging	1.00
R9245:Txnl4a	UTSW	18	80,261,937 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGCAGCGCCGAAAAGCGTCA -3'
(R):5'- TCTAGCACAAACCTTGCCCGTACAT -3'

Sequencing Primer
(F):5'- CTCACACGAGGTTAGAGGTC -3'
(R):5'- TTGCCCGTACATGAACCC -3'

Posted On

2014-01-29