Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01532:Crem'

89814

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 #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3276732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 7 (T7I)

Ref Sequence

ENSEMBL: ENSMUSP00000061925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025069] [ENSMUST00000049942] [ENSMUST00000082141] [ENSMUST00000122958] [ENSMUST00000123672] [ENSMUST00000124747] [ENSMUST00000126578] [ENSMUST00000131899] [ENSMUST00000144496] [ENSMUST00000130599] [ENSMUST00000147138] [ENSMUST00000134027] [ENSMUST00000140332] [ENSMUST00000136961] [ENSMUST00000130455] [ENSMUST00000146265] [ENSMUST00000137568] [ENSMUST00000139537] [ENSMUST00000129435] [ENSMUST00000150235] [ENSMUST00000156234] [ENSMUST00000148305] [ENSMUST00000152900] [ENSMUST00000154135] [ENSMUST00000165086] [ENSMUST00000152108] [ENSMUST00000154705] [ENSMUST00000154715] [ENSMUST00000151311] [ENSMUST00000151084] [ENSMUST00000154470]

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: ENSMUST00000049942
AA Change: T7I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000061925
Gene: ENSMUSG00000063889
AA Change: T7I

Domain	Start	End	E-Value	Type
BRLZ	59	117	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

SMART Domains

Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889

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: ENSMUST00000124747

SMART Domains

Protein: ENSMUSP00000121352
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	42	100	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126578

SMART Domains

Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889

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

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: 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: 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: ENSMUST00000147138

SMART Domains

Protein: ENSMUSP00000114280
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	60	117	2.73e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140912

Predicted Effect

probably benign
Transcript: ENSMUST00000134027

Predicted Effect

probably benign
Transcript: ENSMUST00000140332

SMART Domains

Protein: ENSMUSP00000115423
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	48	105	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: 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: 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: 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 benign
Transcript: ENSMUST00000139537

SMART Domains

Protein: ENSMUSP00000122123
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	35	93	3.8e-6	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

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: 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: 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: ENSMUST00000148305

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

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

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: ENSMUST00000154705

SMART Domains

Protein: ENSMUSP00000119194
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	60	118	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154715

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889

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: 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: ENSMUST00000151084

SMART Domains

Protein: ENSMUSP00000118578
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	48	106	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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,558,349 (GRCm39)	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,842,416 (GRCm39)	T260I	probably damaging	Het
Ambra1	G	T	2: 91,715,977 (GRCm39)	K769N	probably damaging	Het
Arel1	A	G	12: 84,980,936 (GRCm39)	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,903,651 (GRCm39)	C76*	probably null	Het
AW112010	C	A	19: 11,025,433 (GRCm39)		noncoding transcript	Het
Bfar	A	T	16: 13,505,251 (GRCm39)		probably benign	Het
Ccdc70	T	G	8: 22,463,299 (GRCm39)	L30V	probably damaging	Het
Cep20	A	G	16: 14,122,375 (GRCm39)	S130P	probably benign	Het
Chrm5	C	T	2: 112,309,577 (GRCm39)	R513Q	probably benign	Het
Cyp4f39	C	T	17: 32,689,928 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,208,660 (GRCm39)	T849A	probably benign	Het
Dock8	G	T	19: 25,146,805 (GRCm39)	G1428V	probably damaging	Het
Eomes	T	C	9: 118,311,317 (GRCm39)	I380T	probably damaging	Het
Fam13a	T	C	6: 58,917,280 (GRCm39)	D532G	probably damaging	Het
Gm10061	G	T	16: 88,948,190 (GRCm39)	*55L	probably null	Het
Gm27438	T	G	2: 87,083,269 (GRCm39)		probably benign	Het
Gpalpp1	T	C	14: 76,339,942 (GRCm39)	K124E	probably benign	Het
Hgs	T	A	11: 120,368,335 (GRCm39)		probably null	Het
Hpn	T	A	7: 30,802,938 (GRCm39)	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,334,088 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,877,983 (GRCm39)	C583S	probably damaging	Het
Katnal2	T	C	18: 77,099,696 (GRCm39)	H146R	probably benign	Het
Ldah	T	C	12: 8,270,596 (GRCm39)		probably benign	Het
Lvrn	T	A	18: 47,033,551 (GRCm39)	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,423,743 (GRCm39)	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,450,551 (GRCm39)	S518G	probably benign	Het
Ncf1	T	C	5: 134,255,447 (GRCm39)	N148S	probably benign	Het
Nes	T	G	3: 87,885,654 (GRCm39)	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,062,981 (GRCm39)		probably benign	Het
Or52b4i	T	C	7: 102,191,863 (GRCm39)	L240P	probably damaging	Het
Rnf31	C	A	14: 55,840,080 (GRCm39)	Q968K	probably damaging	Het
Ros1	A	G	10: 51,967,034 (GRCm39)		probably benign	Het
Ryk	T	C	9: 102,774,465 (GRCm39)	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,250,022 (GRCm39)		probably null	Het
Sptssb	A	G	3: 69,728,202 (GRCm39)		probably benign	Het
Sstr5	T	C	17: 25,710,305 (GRCm39)	D308G	probably damaging	Het
Taf2	A	G	15: 54,912,882 (GRCm39)	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vti1b	A	C	12: 79,211,912 (GRCm39)	L1W	probably null	Het
Wdr1	T	C	5: 38,692,530 (GRCm39)	Y125C	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
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

2013-12-03