Mutagenetix > Incidental Mutation

Incidental Mutation 'R4903:Txnl4a'

378004

Institutional Source

Beutler Lab

Gene Symbol

Txnl4a

Ensembl Gene

ENSMUSG00000057130

Gene Name

thioredoxin-like 4A

Synonyms

Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa

MMRRC Submission

042506-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R4903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80250041-80269066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80250493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 30 (F30L)

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

possibly damaging
Transcript: ENSMUST00000025464
AA Change: F30L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
AA Change: F30L

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

noncoding transcript
Transcript: ENSMUST00000153363

Predicted Effect

probably damaging
Transcript: ENSMUST00000145963
AA Change: F30L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: F30L

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: ENSMUST00000145116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155879

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abca9	A	G	11: 110,037,827 (GRCm39)	Y508H	probably damaging	Het
Abcc9	A	T	6: 142,546,691 (GRCm39)	L1347H	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Agbl2	A	G	2: 90,627,817 (GRCm39)	I207M	possibly damaging	Het
Akna	C	A	4: 63,292,274 (GRCm39)	R1130S	probably damaging	Het
Alg12	A	T	15: 88,698,743 (GRCm39)	I194N	probably damaging	Het
Alk	T	A	17: 72,176,558 (GRCm39)	H1582L	probably damaging	Het
Atn1	G	C	6: 124,720,220 (GRCm39)		probably benign	Het
Carhsp1	T	C	16: 8,478,864 (GRCm39)	T130A	probably damaging	Het
Chrna3	T	C	9: 54,922,810 (GRCm39)	T333A	probably benign	Het
Ctsr	T	A	13: 61,310,945 (GRCm39)	I34L	probably benign	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Dars2	G	C	1: 160,878,941 (GRCm39)	P362R	probably benign	Het
Dnah10	A	G	5: 124,894,812 (GRCm39)	E3459G	probably damaging	Het
Dus2	G	A	8: 106,771,437 (GRCm39)	D188N	probably benign	Het
Ece2	C	T	16: 20,449,972 (GRCm39)	R189*	probably null	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Egr2	T	A	10: 67,374,163 (GRCm39)	I51N	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Gm11564	A	C	11: 99,705,858 (GRCm39)	C191G	unknown	Het
Gpatch8	A	G	11: 102,370,959 (GRCm39)	S860P	unknown	Het
Gprin1	C	G	13: 54,885,742 (GRCm39)	W844S	probably damaging	Het
Hhipl2	T	A	1: 183,207,698 (GRCm39)	Y252*	probably null	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hrg	A	G	16: 22,779,901 (GRCm39)		probably benign	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Jak2	A	G	19: 29,252,436 (GRCm39)	S129G	probably benign	Het
Kif1a	C	T	1: 92,949,456 (GRCm39)	E1579K	probably damaging	Het
Lhcgr	A	T	17: 89,049,789 (GRCm39)	I579N	probably damaging	Het
Lrig3	A	T	10: 125,832,482 (GRCm39)		probably null	Het
Man2c1	C	A	9: 57,046,240 (GRCm39)	Q465K	probably benign	Het
Map3k5	T	A	10: 19,994,235 (GRCm39)	L1043Q	probably null	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mapk8ip3	A	G	17: 25,120,183 (GRCm39)	S946P	probably benign	Het
Mrpl50	T	C	4: 49,514,488 (GRCm39)	Y61C	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Nek11	T	C	9: 105,191,921 (GRCm39)	K163R	possibly damaging	Het
Or1l4b	A	T	2: 37,036,383 (GRCm39)	H53L	probably benign	Het
Or4c105	A	T	2: 88,648,342 (GRCm39)	I276L	probably benign	Het
Pcdhga9	C	A	18: 37,872,058 (GRCm39)	T629K	probably damaging	Het
Pglyrp1	A	G	7: 18,624,128 (GRCm39)	N137S	probably benign	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pitpnm2	T	A	5: 124,290,668 (GRCm39)	Y6F	probably damaging	Het
Pkd1	T	G	17: 24,790,976 (GRCm39)	V1057G	probably benign	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plekha5	T	A	6: 140,532,093 (GRCm39)	M586K	probably damaging	Het
Ppp4r4	T	A	12: 103,557,030 (GRCm39)		probably null	Het
Rasal3	C	T	17: 32,616,357 (GRCm39)	C278Y	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Sema3d	A	G	5: 12,613,125 (GRCm39)	K401E	probably benign	Het
Sema7a	T	C	9: 57,862,378 (GRCm39)	Y194H	probably benign	Het
Senp5	A	T	16: 31,802,117 (GRCm39)	Y585N	probably damaging	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Shbg	C	T	11: 69,505,912 (GRCm39)	S365N	probably benign	Het
Slc39a6	A	T	18: 24,730,925 (GRCm39)	S65T	probably damaging	Het
Stk3	T	C	15: 34,959,212 (GRCm39)	E320G	probably damaging	Het
Syk	T	A	13: 52,765,117 (GRCm39)	H81Q	probably damaging	Het
Tet1	A	G	10: 62,658,437 (GRCm39)	W1470R	probably damaging	Het
Thada	C	A	17: 84,559,828 (GRCm39)	V1450L	possibly damaging	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Trim40	T	C	17: 37,194,117 (GRCm39)	E192G	possibly damaging	Het
Trip11	A	T	12: 101,853,065 (GRCm39)		probably null	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Tshr	A	G	12: 91,367,962 (GRCm39)	D35G	probably benign	Het
Tssc4	T	C	7: 142,624,322 (GRCm39)	V210A	probably damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubac2	G	T	14: 122,231,650 (GRCm39)	C192F	probably benign	Het
Vmn1r12	A	G	6: 57,136,502 (GRCm39)	T156A	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,578 (GRCm39)	T175S	probably benign	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
R1263:Txnl4a	UTSW	18	80,250,536 (GRCm39)	missense	probably benign	0.02
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
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'- TCACACGAGGTTAGAGGTCGTC -3'
(R):5'- ATGAACCCCGTCTCTCTGTG -3'

Sequencing Primer
(F):5'- TTGCAGTGGGGCCCTAG -3'
(R):5'- CTGTGGGTCTCTGCATGGAAC -3'

Posted On

2016-04-15