Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Zcrb1'

501693

Institutional Source

Beutler Lab

Gene Symbol

Zcrb1

Ensembl Gene

ENSMUSG00000022635

Gene Name

zinc finger CCHC-type and RNA binding motif 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93386097-93398334 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93395615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 29 (I29L)

Ref Sequence

ENSEMBL: ENSMUSP00000125442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049122] [ENSMUST00000068457] [ENSMUST00000076070] [ENSMUST00000109256] [ENSMUST00000161409] [ENSMUST00000162160] [ENSMUST00000165935] [ENSMUST00000229071] [ENSMUST00000230385]

AlphaFold

Q9CZ96

Predicted Effect

probably benign
Transcript: ENSMUST00000049122

SMART Domains

Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167

Domain	Start	End	E-Value	Type
low complexity region	35	59	N/A	INTRINSIC
low complexity region	154	174	N/A	INTRINSIC
low complexity region	215	231	N/A	INTRINSIC
Pfam:Lge1	275	365	2.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068457

SMART Domains

Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167

Domain	Start	End	E-Value	Type
low complexity region	85	105	N/A	INTRINSIC
low complexity region	146	162	N/A	INTRINSIC
Pfam:Lge1	179	297	8.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076070
AA Change: I29L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075441
Gene: ENSMUSG00000022635
AA Change: I29L

Domain	Start	End	E-Value	Type
RRM	11	84	3.3e-24	SMART
ZnF_C2HC	106	122	3.83e-3	SMART
low complexity region	125	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109256

SMART Domains

Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167

Domain	Start	End	E-Value	Type
low complexity region	85	105	N/A	INTRINSIC
low complexity region	127	143	N/A	INTRINSIC
Pfam:Lge1	160	278	7.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160407

Predicted Effect

probably benign
Transcript: ENSMUST00000161409
AA Change: I29L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125442
Gene: ENSMUSG00000022635
AA Change: I29L

Domain	Start	End	E-Value	Type
Pfam:RRM_1	12	45	8.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161955

Predicted Effect

probably benign
Transcript: ENSMUST00000162160
AA Change: I29L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124549
Gene: ENSMUSG00000022635
AA Change: I29L

Domain	Start	End	E-Value	Type
RRM	11	84	3.3e-24	SMART
ZnF_C2HC	106	122	3.83e-3	SMART
low complexity region	125	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165935

SMART Domains

Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167

Domain	Start	End	E-Value	Type
low complexity region	85	105	N/A	INTRINSIC
low complexity region	127	143	N/A	INTRINSIC
Pfam:Lge1	160	278	7.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229071

Predicted Effect

probably benign
Transcript: ENSMUST00000230385

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly damaging	Het

Other mutations in Zcrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0894:Zcrb1	UTSW	15	93,397,157 (GRCm38)	unclassified	probably benign
R0926:Zcrb1	UTSW	15	93,391,528 (GRCm38)	missense	probably damaging	1.00
R2135:Zcrb1	UTSW	15	93,397,186 (GRCm38)	missense	probably damaging	1.00
R5174:Zcrb1	UTSW	15	93,387,575 (GRCm38)	critical splice donor site	probably null
R6058:Zcrb1	UTSW	15	93,387,582 (GRCm38)	missense	probably benign
R7807:Zcrb1	UTSW	15	93,391,121 (GRCm38)	missense	probably damaging	1.00
R8269:Zcrb1	UTSW	15	93,397,175 (GRCm38)	missense	probably benign	0.00
R8682:Zcrb1	UTSW	15	93,386,237 (GRCm38)	missense	probably benign	0.00
R9027:Zcrb1	UTSW	15	93,387,575 (GRCm38)	critical splice donor site	probably null
U24488:Zcrb1	UTSW	15	93,387,634 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTAGTATGTCTCAGGCTCTG -3'
(R):5'- TAGACATGCTGAGTGGTCCC -3'

Sequencing Primer
(F):5'- CTGTTTCTCAGCACTGTAAAAGC -3'
(R):5'- AGGAACTGAAGCTTGTAACTCC -3'

Posted On

2017-12-01