Mutagenetix > Incidental Mutation

Incidental Mutation 'R6445:Crem'

519176

Institutional Source

Beutler Lab

Gene Symbol

Crem

Ensembl Gene

ENSMUSG00000063889

Gene Name

cAMP responsive element modulator

Synonyms

ICER

MMRRC Submission

044388-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R6445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3309671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 18 (Y18C)

Ref Sequence

ENSEMBL: ENSMUSP00000122179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025069] [ENSMUST00000082141] [ENSMUST00000123672] [ENSMUST00000130455] [ENSMUST00000130599] [ENSMUST00000131899] [ENSMUST00000136961] [ENSMUST00000144496] [ENSMUST00000152108] [ENSMUST00000154135] [ENSMUST00000148305] [ENSMUST00000149803] [ENSMUST00000152900] [ENSMUST00000142690] [ENSMUST00000151311] [ENSMUST00000146265] [ENSMUST00000134027] [ENSMUST00000137568] [ENSMUST00000150235] [ENSMUST00000154715] [ENSMUST00000154470] [ENSMUST00000156234] [ENSMUST00000165086]

AlphaFold

P27699

Predicted Effect

probably benign
Transcript: ENSMUST00000025069

SMART Domains

Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	3.1e-20	PFAM
BRLZ	285	343	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000082141

SMART Domains

Protein: ENSMUSP00000080780
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	63	104	2.6e-20	PFAM
BRLZ	248	306	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123672

SMART Domains

Protein: ENSMUSP00000120557
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	47	88	1.5e-20	PFAM
BRLZ	157	214	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127601

SMART Domains

Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC
Pfam:pKID	98	139	3.1e-21	PFAM
BRLZ	271	328	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130455

SMART Domains

Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	67	78	N/A	INTRINSIC
Pfam:pKID	102	143	2.8e-20	PFAM
BRLZ	275	333	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130599

SMART Domains

Protein: ENSMUSP00000115471
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	47	88	1.6e-20	PFAM
BRLZ	169	226	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131899

SMART Domains

Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	67	78	N/A	INTRINSIC
Pfam:pKID	102	143	2.2e-20	PFAM
BRLZ	224	282	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136961
AA Change: Y18C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115363
Gene: ENSMUSG00000063889
AA Change: Y18C

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	6.5e-21	PFAM
BRLZ	208	265	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144496
AA Change: Y18C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120349
Gene: ENSMUSG00000063889
AA Change: Y18C

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	6.9e-21	PFAM
BRLZ	220	277	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152108
AA Change: Y18C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122241
Gene: ENSMUSG00000063889
AA Change: Y18C

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	4.7e-21	PFAM
BRLZ	157	214	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154135

SMART Domains

Protein: ENSMUSP00000122051
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	63	104	1.9e-20	PFAM
BRLZ	185	243	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148305

Predicted Effect

probably benign
Transcript: ENSMUST00000149803

SMART Domains

Protein: ENSMUSP00000121210
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	47	89	2.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152900

SMART Domains

Protein: ENSMUSP00000123515
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	53	94	2.4e-20	PFAM
BRLZ	238	296	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142690

SMART Domains

Protein: ENSMUSP00000122282
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
Pfam:pKID	96	138	4.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151311

SMART Domains

Protein: ENSMUSP00000118267
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	63	104	7.5e-21	PFAM
BRLZ	236	293	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146265

SMART Domains

Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	67	78	N/A	INTRINSIC
Pfam:pKID	102	143	2.1e-20	PFAM
BRLZ	212	269	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134027

Predicted Effect

probably benign
Transcript: ENSMUST00000137568

SMART Domains

Protein: ENSMUSP00000115336
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	53	94	1.5e-20	PFAM
BRLZ	163	221	3.8e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140912

Predicted Effect

probably benign
Transcript: ENSMUST00000150235

SMART Domains

Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	1.1e-20	PFAM
BRLZ	297	354	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154715
AA Change: Y18C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
Pfam:pKID	84	125	8.7e-21	PFAM
BRLZ	269	327	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154470

SMART Domains

Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	2.3e-20	PFAM
BRLZ	222	280	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156234

SMART Domains

Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
Pfam:pKID	96	137	9.1e-21	PFAM
BRLZ	281	339	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165086

SMART Domains

Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	2.4e-20	PFAM
BRLZ	234	292	3.8e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a basic-leucine zipper domain-containing protein that localizes to gene promoters, where it binds to the cyclic AMP response element (CRE). Different protein isoforms encoded by this gene may function as either activators or repressors of transcription. Activity of this gene is important in multiple developmental processes, including spermatogenesis. Mutation of this gene causes male infertility. Alternative splicing and promoter usage result in multiple transcript variants for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	C	A	14: 44,738,731 (GRCm39)	D43E	probably benign	Het
Cdh22	T	C	2: 165,012,612 (GRCm39)	I158V	probably damaging	Het
Cntrl	A	G	2: 35,052,860 (GRCm39)	I1676V	probably benign	Het
Cyp2b9	A	G	7: 25,886,412 (GRCm39)	I146V	probably benign	Het
Efcab14	C	A	4: 115,613,668 (GRCm39)	H205Q	possibly damaging	Het
Efcab6	T	C	15: 83,752,558 (GRCm39)	Y1437C	probably damaging	Het
Gm3055	T	A	10: 81,945,506 (GRCm39)	N375K	possibly damaging	Het
Gm36864	A	T	7: 43,886,842 (GRCm39)	Q245L	possibly damaging	Het
Gna11	A	T	10: 81,369,167 (GRCm39)	I132N	probably damaging	Het
Ikzf4	C	A	10: 128,472,424 (GRCm39)		probably null	Het
Il9r	C	T	11: 32,141,000 (GRCm39)	G346D	possibly damaging	Het
Krt71	C	T	15: 101,648,775 (GRCm39)	R190Q	probably benign	Het
Mfsd8	T	C	3: 40,791,553 (GRCm39)	I54V	probably damaging	Het
Nktr	G	T	9: 121,577,480 (GRCm39)		probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or5ac17	A	T	16: 59,036,472 (GRCm39)	F168Y	probably damaging	Het
Peli2	T	C	14: 48,493,905 (GRCm39)	S376P	possibly damaging	Het
Pik3r2	C	T	8: 71,224,670 (GRCm39)	A202T	probably benign	Het
Pms1	A	T	1: 53,231,353 (GRCm39)	I832K	possibly damaging	Het
Reln	T	C	5: 22,124,212 (GRCm39)	K2765E	probably benign	Het
Rp1	A	T	1: 4,296,840 (GRCm39)	N744K	unknown	Het
Smcr8	T	C	11: 60,669,841 (GRCm39)	Y330H	possibly damaging	Het
Sned1	A	T	1: 93,211,318 (GRCm39)	R281S	possibly damaging	Het
Synm	A	G	7: 67,383,393 (GRCm39)	V1423A	probably benign	Het
Syt10	G	A	15: 89,698,471 (GRCm39)	T291I	probably damaging	Het
Ttn	T	C	2: 76,744,880 (GRCm39)		probably benign	Het
Wdr3	T	C	3: 100,063,719 (GRCm39)	T186A	possibly damaging	Het
Zfp451	A	C	1: 33,812,092 (GRCm39)	D874E	probably damaging	Het

Other mutations in Crem

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Crem	APN	18	3,299,236 (GRCm39)	missense	probably damaging	1.00
IGL01532:Crem	APN	18	3,276,732 (GRCm39)	missense	probably benign	0.02
IGL02500:Crem	APN	18	3,273,477 (GRCm39)	missense	probably damaging	1.00
IGL03280:Crem	APN	18	3,273,415 (GRCm39)	splice site	probably benign
menthe	UTSW	18	3,268,070 (GRCm39)	missense	probably damaging	1.00
R0379:Crem	UTSW	18	3,299,226 (GRCm39)	missense	probably damaging	1.00
R0987:Crem	UTSW	18	3,288,060 (GRCm39)	missense	probably damaging	0.98
R1829:Crem	UTSW	18	3,295,037 (GRCm39)	splice site	probably null
R1932:Crem	UTSW	18	3,299,284 (GRCm39)	missense	probably benign	0.27
R2086:Crem	UTSW	18	3,288,098 (GRCm39)	intron	probably benign
R2093:Crem	UTSW	18	3,299,256 (GRCm39)	missense	probably damaging	1.00
R4152:Crem	UTSW	18	3,288,055 (GRCm39)	missense	probably damaging	0.99
R4568:Crem	UTSW	18	3,299,175 (GRCm39)	missense	probably damaging	0.98
R4758:Crem	UTSW	18	3,327,527 (GRCm39)	missense	probably damaging	1.00
R6032:Crem	UTSW	18	3,267,673 (GRCm39)	missense	probably damaging	1.00
R6032:Crem	UTSW	18	3,267,673 (GRCm39)	missense	probably damaging	1.00
R6525:Crem	UTSW	18	3,268,070 (GRCm39)	missense	probably damaging	1.00
R6651:Crem	UTSW	18	3,325,428 (GRCm39)	missense	probably benign	0.18
R7035:Crem	UTSW	18	3,327,503 (GRCm39)	missense	probably damaging	1.00
R7137:Crem	UTSW	18	3,273,459 (GRCm39)	missense	possibly damaging	0.89
R7401:Crem	UTSW	18	3,295,329 (GRCm39)	missense	probably damaging	1.00
R7463:Crem	UTSW	18	3,295,094 (GRCm39)	missense	probably benign	0.06
R7516:Crem	UTSW	18	3,299,141 (GRCm39)	splice site	probably null
R8095:Crem	UTSW	18	3,295,106 (GRCm39)	missense	probably benign	0.00
R8146:Crem	UTSW	18	3,288,007 (GRCm39)	missense	possibly damaging	0.68
R8266:Crem	UTSW	18	3,309,535 (GRCm39)	intron	probably benign
R8308:Crem	UTSW	18	3,295,397 (GRCm39)	missense	possibly damaging	0.55
R8825:Crem	UTSW	18	3,268,061 (GRCm39)	missense	probably damaging	0.99
R8899:Crem	UTSW	18	3,295,370 (GRCm39)	missense	probably damaging	0.99
R8976:Crem	UTSW	18	3,268,088 (GRCm39)	missense	possibly damaging	0.88
R9681:Crem	UTSW	18	3,268,067 (GRCm39)	missense	probably damaging	1.00
Z1176:Crem	UTSW	18	3,267,730 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGAGAGCCTAAAGTGTATATATCC -3'
(R):5'- AGCTGGTCTACTAGGTGCTG -3'

Sequencing Primer
(F):5'- AGCCTAAAGTGTATATATCCCATTCC -3'
(R):5'- CATGCTGTGCTACAACACTGTGAG -3'

Posted On

2018-05-24