Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:Creb3l4'

234597

Institutional Source

Beutler Lab

Gene Symbol

Creb3l4

Ensembl Gene

ENSMUSG00000027938

Gene Name

cAMP responsive element binding protein 3-like 4

Synonyms

5330432F22Rik, Tisp40beta, Tisp40, ATCE1, Tisp40alpha, mJAL, 1700012K17Rik, JAL

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90144807-90150819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90145792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 246 (N246K)

Ref Sequence

ENSEMBL: ENSMUSP00000102992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029546] [ENSMUST00000029547] [ENSMUST00000029547] [ENSMUST00000107369] [ENSMUST00000107369] [ENSMUST00000119304]

AlphaFold

Q9D2A5

Predicted Effect

probably benign
Transcript: ENSMUST00000029546

SMART Domains

Protein: ENSMUSP00000029546
Gene: ENSMUSG00000027937

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:JTB	37	143	5.6e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000029547
AA Change: N246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938
AA Change: N246K

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
BRLZ	191	255	1.49e-13	SMART
low complexity region	275	291	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000029547
AA Change: N246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938
AA Change: N246K

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
BRLZ	191	255	1.49e-13	SMART
low complexity region	275	291	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107369
AA Change: N246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938
AA Change: N246K

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
BRLZ	191	255	1.49e-13	SMART
low complexity region	275	291	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107369
AA Change: N246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938
AA Change: N246K

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
BRLZ	191	255	1.49e-13	SMART
low complexity region	275	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119304

SMART Domains

Protein: ENSMUSP00000113763
Gene: ENSMUSG00000027937

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:JTB	30	95	1.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a CREB (cyclic AMP-responsive element-binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein may play a role in adiposity and male germ cell development. Homozygous knockout mice for this gene show increased adipogenesis, elevated testicular germ cell apoptosis and defects in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abca3	A	G	17: 24,596,693 (GRCm39)	Y382C	probably damaging	Het
Abca5	A	G	11: 110,183,000 (GRCm39)	I1019T	probably benign	Het
Acox3	A	T	5: 35,762,568 (GRCm39)	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Aqr	A	C	2: 113,967,485 (GRCm39)	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,029,369 (GRCm39)	T56S	probably benign	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Aspg	A	G	12: 112,087,408 (GRCm39)	E288G	probably benign	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,267,092 (GRCm39)	L205P	probably damaging	Het
Cant1	A	G	11: 118,302,263 (GRCm39)	L18P	probably damaging	Het
Cdca2	G	A	14: 67,914,425 (GRCm39)	P945S	probably damaging	Het
Cfap74	A	G	4: 155,513,753 (GRCm39)	K522E	possibly damaging	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cpa6	A	T	1: 10,407,547 (GRCm39)	M330K	probably damaging	Het
Cyp2c55	T	A	19: 39,022,819 (GRCm39)	V319D	probably damaging	Het
Dapk1	T	A	13: 60,877,317 (GRCm39)	S519T	probably benign	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dock4	T	A	12: 40,870,661 (GRCm39)	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,894,547 (GRCm39)		probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Ercc6l2	T	C	13: 64,013,821 (GRCm39)	S631P	probably damaging	Het
Fat4	A	T	3: 38,941,688 (GRCm39)	S194C	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gdf10	T	C	14: 33,656,346 (GRCm39)	I436T	probably damaging	Het
Gfod1	T	C	13: 43,456,946 (GRCm39)	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,018,458 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,138,873 (GRCm39)	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,376,475 (GRCm39)	K211*	probably null	Het
Itgam	A	C	7: 127,684,749 (GRCm39)	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,089,107 (GRCm39)	F484S	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kif16b	T	C	2: 142,532,500 (GRCm39)	K1213R	probably damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,228,797 (GRCm39)	K38E	possibly damaging	Het
Myh14	A	C	7: 44,301,853 (GRCm39)		probably null	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,307,240 (GRCm39)	T562A	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Pds5a	A	T	5: 65,807,841 (GRCm39)	V464E	probably damaging	Het
Peak1	C	T	9: 56,114,496 (GRCm39)	V452M	probably damaging	Het
Phf2	T	C	13: 48,973,549 (GRCm39)	Y372C	unknown	Het
Poc1a	T	A	9: 106,162,773 (GRCm39)		probably null	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psmc2	C	G	5: 22,008,127 (GRCm39)	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,365,453 (GRCm39)	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,721 (GRCm39)	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945 (GRCm39)	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,516,574 (GRCm39)	D1266E	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,037,753 (GRCm39)	K125R	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Smg1	A	T	7: 117,757,299 (GRCm39)		probably benign	Het
Spinkl	A	T	18: 44,302,194 (GRCm39)	N32K	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmco6	T	C	18: 36,874,740 (GRCm39)	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235 (GRCm39)	T198A	probably damaging	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,910,965 (GRCm39)	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,805 (GRCm39)	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,212,923 (GRCm39)	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yme1l1	T	C	2: 23,052,520 (GRCm39)	L58P	probably damaging	Het
Zan	G	A	5: 137,412,511 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,466,801 (GRCm39)	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het

Other mutations in Creb3l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Creb3l4	APN	3	90,149,294 (GRCm39)	missense	possibly damaging	0.95
IGL01015:Creb3l4	APN	3	90,150,138 (GRCm39)	start codon destroyed	probably null
IGL01092:Creb3l4	APN	3	90,145,045 (GRCm39)	missense	probably damaging	1.00
IGL02172:Creb3l4	APN	3	90,150,082 (GRCm39)	missense	probably benign	0.21
IGL02291:Creb3l4	APN	3	90,149,290 (GRCm39)	missense	probably benign	0.03
R1344:Creb3l4	UTSW	3	90,146,045 (GRCm39)	missense	possibly damaging	0.73
R1418:Creb3l4	UTSW	3	90,146,045 (GRCm39)	missense	possibly damaging	0.73
R1836:Creb3l4	UTSW	3	90,146,210 (GRCm39)	missense	probably benign	0.26
R2877:Creb3l4	UTSW	3	90,149,615 (GRCm39)	missense	probably damaging	0.99
R4923:Creb3l4	UTSW	3	90,149,521 (GRCm39)	missense	probably benign	0.00
R6024:Creb3l4	UTSW	3	90,146,006 (GRCm39)	missense	probably damaging	1.00
R6683:Creb3l4	UTSW	3	90,145,112 (GRCm39)	missense	probably benign	0.08
R7567:Creb3l4	UTSW	3	90,149,729 (GRCm39)	missense	probably benign	0.00
R8749:Creb3l4	UTSW	3	90,145,199 (GRCm39)	missense	probably benign
R8794:Creb3l4	UTSW	3	90,145,225 (GRCm39)	missense	probably benign	0.04
Z1088:Creb3l4	UTSW	3	90,145,058 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCTGATGGTACCAGAACACAG -3'
(R):5'- AATCCGCAACAAGCAGTCGG -3'

Sequencing Primer
(F):5'- AACACAGGTGCTGGTCTG -3'
(R):5'- TACTTAGATGGGCTGGAGAGC -3'

Posted On

2014-10-01