Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01085:Crem'

53158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crem

Ensembl Gene

ENSMUSG00000063889

Gene Name

cAMP responsive element modulator

Synonyms

ICER

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3299236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 26 (T26A)

Ref Sequence

ENSEMBL: ENSMUSP00000114780 (fasta)

Gene Model

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

AlphaFold

P27699

Predicted Effect

probably damaging
Transcript: ENSMUST00000025069
AA Change: T79A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889
AA Change: T79A

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 damaging
Transcript: ENSMUST00000122958
AA Change: T26A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889
AA Change: T26A

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 damaging
Transcript: ENSMUST00000126578
AA Change: T26A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889
AA Change: T26A

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: T64A

SMART Domains

Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889
AA Change: T64A

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: ENSMUST00000146265
AA Change: T69A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889
AA Change: T69A

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 damaging
Transcript: ENSMUST00000142690
AA Change: T63A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122282
Gene: ENSMUSG00000063889
AA Change: T63A

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 damaging
Transcript: ENSMUST00000130455
AA Change: T69A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889
AA Change: T69A

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 damaging
Transcript: ENSMUST00000131899
AA Change: T69A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889
AA Change: T69A

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

noncoding transcript
Transcript: ENSMUST00000149266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130047

Predicted Effect

probably benign
Transcript: ENSMUST00000148305

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: 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

probably damaging
Transcript: ENSMUST00000150235
AA Change: T79A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889
AA Change: T79A

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: ENSMUST00000154715
AA Change: T51A

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889
AA Change: T51A

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: ENSMUST00000165086
AA Change: T79A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889
AA Change: T79A

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 damaging
Transcript: ENSMUST00000154470
AA Change: T79A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889
AA Change: T79A

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 damaging
Transcript: ENSMUST00000156234
AA Change: T63A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889
AA Change: T63A

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

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: 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: 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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,944,763 (GRCm39)		probably benign	Het
Acp7	T	C	7: 28,310,478 (GRCm39)	Y453C	probably damaging	Het
Bop1	T	C	15: 76,337,576 (GRCm39)	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,569,006 (GRCm39)	R974S	probably damaging	Het
Ceacam23	A	T	7: 17,649,616 (GRCm39)	H729L	possibly damaging	Het
Cenpt	T	C	8: 106,573,297 (GRCm39)	E350G	possibly damaging	Het
Cep112	G	T	11: 108,377,432 (GRCm39)	R270L	probably damaging	Het
Crot	T	C	5: 9,023,955 (GRCm39)	H387R	probably damaging	Het
Fdxr	A	T	11: 115,160,402 (GRCm39)	V351E	probably benign	Het
Fkbpl	T	C	17: 34,864,718 (GRCm39)	L162P	probably damaging	Het
Fmn2	T	A	1: 174,523,220 (GRCm39)	N1358K	probably damaging	Het
Hectd4	G	T	5: 121,469,764 (GRCm39)	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,594,969 (GRCm39)	I42K	probably benign	Het
Igfals	C	T	17: 25,100,634 (GRCm39)	T575I	probably benign	Het
Il6	G	T	5: 30,218,487 (GRCm39)	V28F	probably damaging	Het
Irx1	A	G	13: 72,107,816 (GRCm39)	S289P	probably benign	Het
Ncoa2	T	C	1: 13,219,303 (GRCm39)	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 77,634,983 (GRCm39)	R28L	probably benign	Het
Nudt5	G	A	2: 5,869,238 (GRCm39)	V155I	probably benign	Het
Or9s13	G	T	1: 92,547,921 (GRCm39)	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,762,640 (GRCm39)	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,426,148 (GRCm39)		probably null	Het
Prodh	A	T	16: 17,894,208 (GRCm39)	V339E	probably damaging	Het
Rbm48	C	T	5: 3,634,762 (GRCm39)	V401M	probably benign	Het
Retreg3	G	A	11: 100,991,751 (GRCm39)	Q61*	probably null	Het
Rif1	A	G	2: 51,975,152 (GRCm39)	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,626,926 (GRCm39)	V507M	probably damaging	Het
Safb2	T	A	17: 56,872,242 (GRCm39)	R197*	probably null	Het
Slc22a26	A	G	19: 7,767,464 (GRCm39)	V314A	probably benign	Het
Slfnl1	G	T	4: 120,390,553 (GRCm39)	R68L	probably damaging	Het
Spata1	G	T	3: 146,181,997 (GRCm39)	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Thpo	T	C	16: 20,547,205 (GRCm39)	D52G	probably damaging	Het
Tmem101	A	T	11: 102,045,486 (GRCm39)	L121Q	probably damaging	Het
Trim40	T	C	17: 37,194,133 (GRCm39)	I187V	probably benign	Het
Usp33	A	G	3: 152,074,206 (GRCm39)	K351E	possibly damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vcan	T	C	13: 89,828,077 (GRCm39)	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,385,771 (GRCm39)	V61I	probably benign	Het
Zfp804b	A	G	5: 6,820,931 (GRCm39)	S675P	probably damaging	Het

Other mutations in Crem

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21