Mutagenetix > Incidental Mutation

Incidental Mutation 'R4568:Crem'

341962

Institutional Source

Beutler Lab

Gene Symbol

Crem

Ensembl Gene

ENSMUSG00000063889

Gene Name

cAMP responsive element modulator

Synonyms

ICER

MMRRC Submission

041792-MU

Accession Numbers

Essential gene?

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

Stock #

R4568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3299175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 83 (I83T)

Ref Sequence

ENSEMBL: ENSMUSP00000121388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025069] [ENSMUST00000082141] [ENSMUST00000122958] [ENSMUST00000123672] [ENSMUST00000126578] [ENSMUST00000129435] [ENSMUST00000142690] [ENSMUST00000130455] [ENSMUST00000131899] [ENSMUST00000146265] [ENSMUST00000144496] [ENSMUST00000148305] [ENSMUST00000136961] [ENSMUST00000130599] [ENSMUST00000134027] [ENSMUST00000149803] [ENSMUST00000137568] [ENSMUST00000150235] [ENSMUST00000154470] [ENSMUST00000154715] [ENSMUST00000156234] [ENSMUST00000165086] [ENSMUST00000151311] [ENSMUST00000152108] [ENSMUST00000154135] [ENSMUST00000152900]

AlphaFold

P27699

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025069
AA Change: I99T

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889
AA Change: I99T

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: ENSMUST00000122958
AA Change: I46T

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889
AA Change: I46T

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
Pfam:pKID	59	100	7.8e-21	PFAM
BRLZ	244	301	2.73e-7	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: ENSMUST00000126578
AA Change: I46T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889
AA Change: I46T

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
Pfam:pKID	59	100	7.8e-21	PFAM
BRLZ	244	302	3.8e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000127601
AA Change: I84T

SMART Domains

Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889
AA Change: I84T

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: ENSMUST00000129435

SMART Domains

Protein: ENSMUSP00000117438
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	10	51	5.6e-21	PFAM
BRLZ	183	240	2.73e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142690
AA Change: I83T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122282
Gene: ENSMUSG00000063889
AA Change: I83T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130047

Predicted Effect

probably benign
Transcript: ENSMUST00000130455
AA Change: I89T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889
AA Change: I89T

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

possibly damaging
Transcript: ENSMUST00000131899
AA Change: I89T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889
AA Change: I89T

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: ENSMUST00000146265
AA Change: I89T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889
AA Change: I89T

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

noncoding transcript
Transcript: ENSMUST00000149266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140912

Predicted Effect

probably benign
Transcript: ENSMUST00000144496

SMART Domains

Protein: ENSMUSP00000120349
Gene: ENSMUSG00000063889

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: ENSMUST00000148305

Predicted Effect

probably benign
Transcript: ENSMUST00000136961

SMART Domains

Protein: ENSMUSP00000115363
Gene: ENSMUSG00000063889

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: 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: ENSMUST00000134027

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: 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

possibly damaging
Transcript: ENSMUST00000150235
AA Change: I99T

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889
AA Change: I99T

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

possibly damaging
Transcript: ENSMUST00000154470
AA Change: I99T

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889
AA Change: I99T

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

possibly damaging
Transcript: ENSMUST00000154715
AA Change: I71T

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889
AA Change: I71T

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 damaging
Transcript: ENSMUST00000156234
AA Change: I83T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889
AA Change: I83T

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

noncoding transcript
Transcript: ENSMUST00000156929

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165086
AA Change: I99T

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889
AA Change: I99T

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

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: ENSMUST00000152108

SMART Domains

Protein: ENSMUSP00000122241
Gene: ENSMUSG00000063889

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: 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

Meta Mutation Damage Score

0.1005

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,162,740 (GRCm39)	W5R	probably benign	Het
Bik	T	C	15: 83,425,645 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,555,031 (GRCm39)		probably benign	Het
Csn1s1	G	A	5: 87,828,763 (GRCm39)	V276I	possibly damaging	Het
Ctnna3	C	T	10: 63,688,588 (GRCm39)	T344M	possibly damaging	Het
Dgcr8	G	A	16: 18,098,258 (GRCm39)	P378S	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Gpr139	C	T	7: 118,744,028 (GRCm39)	V186M	probably damaging	Het
Krba1	A	G	6: 48,386,657 (GRCm39)	T422A	probably damaging	Het
Lgals8	T	G	13: 12,468,254 (GRCm39)	Y125S	probably damaging	Het
Map4k1	G	A	7: 28,686,079 (GRCm39)	G107D	probably damaging	Het
Mfsd6	A	T	1: 52,702,448 (GRCm39)	Y599*	probably null	Het
Omt2b	T	A	9: 78,235,529 (GRCm39)		probably benign	Het
Or1d2	A	G	11: 74,256,035 (GRCm39)	E180G	probably damaging	Het
Or9s15	A	T	1: 92,525,113 (GRCm39)	M291L	probably benign	Het
Pga5	A	G	19: 10,649,216 (GRCm39)	Y235H	probably damaging	Het
Phldb2	T	A	16: 45,598,081 (GRCm39)	K869*	probably null	Het
Pik3cb	T	C	9: 98,972,355 (GRCm39)	M268V	probably benign	Het
Pla2g4a	T	C	1: 149,717,977 (GRCm39)	D624G	probably benign	Het
Plxna4	T	A	6: 32,129,873 (GRCm39)	I1817F	probably damaging	Het
Psmg3	A	G	5: 139,812,004 (GRCm39)	I32T	probably damaging	Het
Ptpn4	T	C	1: 119,607,789 (GRCm39)	E757G	probably damaging	Het
Rasl2-9	AGG	A	7: 5,128,374 (GRCm39)		probably null	Het
Ripply3	T	A	16: 94,136,688 (GRCm39)	D116E	probably damaging	Het
Robo4	T	C	9: 37,316,118 (GRCm39)	V263A	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,647,303 (GRCm39)	H1008R	probably damaging	Het
Stag1	T	C	9: 100,730,722 (GRCm39)	V379A	probably damaging	Het
Tasor	A	T	14: 27,198,658 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,997,806 (GRCm39)	E1121G	probably benign	Het
Tpr	T	C	1: 150,268,710 (GRCm39)		probably benign	Het
Trpv6	G	T	6: 41,603,503 (GRCm39)	P206H	probably damaging	Het
Vmn2r63	T	C	7: 42,583,250 (GRCm39)		probably null	Het
Vmn2r65	C	T	7: 84,596,677 (GRCm39)	C126Y	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
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
R6445:Crem	UTSW	18	3,309,671 (GRCm39)	missense	probably benign
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'- TCCTCCAAGTATTCAAGACGAC -3'
(R):5'- ACAAGTCCAGCTTTAATCCTCAATG -3'

Sequencing Primer
(F):5'- CCTGTAGTCCCATAATTTGAGAGGC -3'
(R):5'- CAGCTTTAATCCTCAATGATGGTC -3'

Posted On

2015-09-24