Mutagenetix > Incidental Mutation

Incidental Mutation 'RF036:Rnf144a'

604595

Institutional Source

Beutler Lab

Gene Symbol

Rnf144a

Ensembl Gene

ENSMUSG00000020642

Gene Name

ring finger protein 144A

Synonyms

UIP4, Rnf144

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF036 (G1)

Quality Score

102.467

Status

Not validated

Chromosome

Chromosomal Location

26356796-26465296 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CTCTC to CTCTCTCTCTCTCTCTATCTC at 26364012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020971] [ENSMUST00000062149]

AlphaFold

Q925F3

Predicted Effect

probably benign
Transcript: ENSMUST00000020971

SMART Domains

Protein: ENSMUSP00000020971
Gene: ENSMUSG00000020642

Domain	Start	End	E-Value	Type
RING	20	68	2.17e-1	SMART
IBR	91	156	6.4e-19	SMART
IBR	168	232	9.16e-1	SMART
RING	185	280	1.58e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062149

SMART Domains

Protein: ENSMUSP00000056073
Gene: ENSMUSG00000020642

Domain	Start	End	E-Value	Type
RING	20	68	2.17e-1	SMART
IBR	91	156	6.4e-19	SMART
IBR	168	232	9.16e-1	SMART
RING	185	280	1.58e0	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	TCCCTG	17: 24,506,701 (GRCm39)		probably benign	Het
Acap3	G	GGGCTGCATCCTGGGC	4: 155,989,544 (GRCm39)		probably benign	Het
Adgra3	GGCCGC	GGC	5: 50,215,983 (GRCm39)		probably benign	Het
Blm	CCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCT	7: 80,162,662 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGG	19: 47,129,716 (GRCm39)		probably benign	Het
Cdx1	CTGCTG	CTGCTGTTGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cherp	ACCTGGACC	AC	8: 73,215,888 (GRCm39)		probably null	Het
Cherp	TGGACC	T	8: 73,215,891 (GRCm39)		probably null	Het
Cyb5r4	CAGACACACTGCC	CAGACACACTGCCTAGGGATGTGATAGACACACTGCC	9: 86,922,483 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Fam171b	GCAGC	GCAGCAACAGC	2: 83,643,236 (GRCm39)		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)		probably benign	Het
Fsip2	TTTT	TTTTTCTTT	2: 82,814,707 (GRCm39)		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,142 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAATTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Iqcf4	TCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT	9: 106,447,810 (GRCm39)		probably benign	Het
Ivl	TGCTGCTGCTGCTGC	T	3: 92,479,648 (GRCm39)		probably null	Het
Kif12	C	CCTCCACCCGGCGGGT	4: 63,089,664 (GRCm39)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,339,381 (GRCm39)		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 28,743,400 (GRCm39)		probably null	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGGAG	X: 70,162,434 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,441 (GRCm39)		probably benign	Het
Morn4	GTGAG	GTGAGTCAGGCAATGAG	19: 42,064,553 (GRCm39)		probably null	Het
Nefh	GGGAC	GGGACGTGGCATCACCTGTGGAC	11: 4,891,048 (GRCm39)		probably benign	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,010 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,016 (GRCm39)		probably benign	Het
Nefh	TGGCCTC	TGGCCTCGCCTGGGGACTGGGCCTC	11: 4,891,036 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCA	TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA	2: 119,458,068 (GRCm39)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA	2: 119,458,075 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,300,539 (GRCm39)		probably benign	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rpgrip1	AGAGGAAG	A	14: 52,386,998 (GRCm39)		probably null	Het
Rsf1	CG	CGATG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd1a	GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,472 (GRCm39)		probably benign	Het
Spmap2l	G	GCGATCCTCCCCAGTCCCGCAAGGCCAT	5: 77,164,276 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,191,419 (GRCm39)	E591D	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC	17: 78,984,706 (GRCm39)		probably null	Het
Tcof1	CT	CTAGT	18: 60,961,480 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,808 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,028 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,673,169 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Usp2	ACTTAC	ACTTACTCATGTGACCCGTTCTTCCCTTAC	9: 44,000,421 (GRCm39)		probably benign	Het

Other mutations in Rnf144a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Rnf144a	APN	12	26,377,300 (GRCm39)	missense	probably benign	0.01
IGL02709:Rnf144a	APN	12	26,371,009 (GRCm39)	missense	probably damaging	1.00
R0432:Rnf144a	UTSW	12	26,389,328 (GRCm39)	missense	probably damaging	1.00
R3897:Rnf144a	UTSW	12	26,360,712 (GRCm39)	missense	probably damaging	1.00
R4087:Rnf144a	UTSW	12	26,377,591 (GRCm39)	missense	probably damaging	1.00
R4504:Rnf144a	UTSW	12	26,377,302 (GRCm39)	missense	probably benign	0.11
R5985:Rnf144a	UTSW	12	26,367,779 (GRCm39)	missense	probably benign	0.04
R6392:Rnf144a	UTSW	12	26,360,779 (GRCm39)	missense	possibly damaging	0.93
R7827:Rnf144a	UTSW	12	26,389,439 (GRCm39)	start codon destroyed	probably null	0.89
R8431:Rnf144a	UTSW	12	26,377,300 (GRCm39)	missense	probably damaging	1.00
R8692:Rnf144a	UTSW	12	26,370,972 (GRCm39)	missense	probably benign	0.04
R8832:Rnf144a	UTSW	12	26,370,948 (GRCm39)	unclassified	probably benign
R8861:Rnf144a	UTSW	12	26,389,343 (GRCm39)	missense	probably damaging	1.00
R9225:Rnf144a	UTSW	12	26,377,606 (GRCm39)	missense	probably damaging	1.00
R9789:Rnf144a	UTSW	12	26,377,574 (GRCm39)	missense	probably benign	0.23
RF018:Rnf144a	UTSW	12	26,364,013 (GRCm39)	critical splice donor site	probably benign
RF036:Rnf144a	UTSW	12	26,364,007 (GRCm39)	critical splice donor site	probably benign
RF043:Rnf144a	UTSW	12	26,364,013 (GRCm39)	critical splice donor site	probably benign
RF048:Rnf144a	UTSW	12	26,364,010 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CTAGAAAACACATTCCTGTCTTCTG -3'
(R):5'- CACACCGGGTATCTGGAAAG -3'

Sequencing Primer
(F):5'- ACACATTCCTGTCTTCTGAAAAATAC -3'
(R):5'- CACCGGGTATCTGGAAAGATCAAAC -3'

Posted On

2019-12-04