Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Cers4'

481386

Institutional Source

Beutler Lab

Gene Symbol

Cers4

Ensembl Gene

ENSMUSG00000008206

Gene Name

ceramide synthase 4

Synonyms

2900019C14Rik, CerS4, Lass4, Trh1

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4542863-4579603 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4568269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 107 (C107*)

Ref Sequence

ENSEMBL: ENSMUSP00000135652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008350] [ENSMUST00000176042] [ENSMUST00000176130]

AlphaFold

Q9D6J1

Predicted Effect

probably null
Transcript: ENSMUST00000008350
AA Change: C107*

SMART Domains

Protein: ENSMUSP00000008350
Gene: ENSMUSG00000008206
AA Change: C107*

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
HOX	75	132	2.42e-2	SMART
TLC	131	332	2.74e-82	SMART
low complexity region	342	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175781

SMART Domains

Protein: ENSMUSP00000138819
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
HOX	75	132	2.42e-2	SMART
TLC	131	332	2.74e-82	SMART
low complexity region	342	357	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176042

SMART Domains

Protein: ENSMUSP00000135594
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
Blast:TLC	4	38	4e-9	BLAST
low complexity region	39	52	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176130
AA Change: C107*

SMART Domains

Protein: ENSMUSP00000135652
Gene: ENSMUSG00000008206
AA Change: C107*

Domain	Start	End	E-Value	Type
transmembrane domain	39	56	N/A	INTRINSIC
HOX	75	132	1.2e-4	SMART
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177010

SMART Domains

Protein: ENSMUSP00000135763
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
Blast:TLC	4	58	7e-9	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered lipid composition of the sebum and hair follicle dystrophy that results in a progressive form of alopecia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,544,018 (GRCm39)	N508D	possibly damaging	Het
Ago1	C	T	4: 126,354,362 (GRCm39)		probably benign	Het
Apol6	A	T	15: 76,935,219 (GRCm39)	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,247,095 (GRCm39)	T33A	probably benign	Het
Atg7	C	A	6: 114,657,197 (GRCm39)	F132L	possibly damaging	Het
Cep104	C	A	4: 154,072,930 (GRCm39)	A396E	probably benign	Het
Cntn6	T	C	6: 104,825,093 (GRCm39)	S878P	probably damaging	Het
Dnah6	T	C	6: 73,158,705 (GRCm39)	K633E	probably benign	Het
Dst	T	A	1: 34,221,972 (GRCm39)	I2592K	probably benign	Het
Ep400	G	A	5: 110,881,595 (GRCm39)		probably benign	Het
Fbn1	A	G	2: 125,157,324 (GRCm39)	C2320R	probably damaging	Het
Gpi1	A	G	7: 33,928,351 (GRCm39)		probably null	Het
Gse1	T	G	8: 120,956,376 (GRCm39)		probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,315,295 (GRCm39)	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,657,573 (GRCm39)	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,496,009 (GRCm39)	V5A	probably benign	Het
Irgq	G	A	7: 24,232,770 (GRCm39)	G204S	probably damaging	Het
Kansl1	T	C	11: 104,234,463 (GRCm39)	K681R	possibly damaging	Het
Kcnv1	C	A	15: 44,972,810 (GRCm39)	V358L	probably damaging	Het
Lrp2	A	T	2: 69,365,349 (GRCm39)	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,045,219 (GRCm39)	D155V	probably damaging	Het
Magel2	A	T	7: 62,030,344 (GRCm39)	I1083F	unknown	Het
Mta3	T	A	17: 84,015,834 (GRCm39)	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,494,977 (GRCm39)	I423T	probably damaging	Het
Mup11	A	G	4: 60,616,887 (GRCm39)	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,804,889 (GRCm39)	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509 (GRCm38)	Q72P	possibly damaging	Het
Nol4	T	A	18: 23,085,258 (GRCm39)	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,618,416 (GRCm39)	V808A	probably damaging	Het
Or10p22	A	G	10: 128,826,309 (GRCm39)	H176R	probably damaging	Het
Or5ak23	A	T	2: 85,244,509 (GRCm39)	F238Y	probably damaging	Het
Or8k24	A	T	2: 86,216,141 (GRCm39)	L207*	probably null	Het
Pate10	A	C	9: 35,652,911 (GRCm39)	D51A	probably damaging	Het
Pik3c2b	C	A	1: 133,016,046 (GRCm39)	D869E	probably benign	Het
Pom121l2	T	C	13: 22,167,546 (GRCm39)	S606P	probably damaging	Het
Prdm15	G	A	16: 97,613,770 (GRCm39)	R517*	probably null	Het
Ralgapa1	T	A	12: 55,817,401 (GRCm39)		probably null	Het
Saraf	T	A	8: 34,632,541 (GRCm39)	F207I	probably benign	Het
Sema6d	A	G	2: 124,506,628 (GRCm39)	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,190,411 (GRCm39)	L14M	unknown	Het
Sidt1	A	T	16: 44,083,675 (GRCm39)	C485*	probably null	Het
Sptbn4	A	G	7: 27,071,596 (GRCm39)	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,662,716 (GRCm39)	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Ticrr	G	A	7: 79,310,703 (GRCm39)	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,861,662 (GRCm39)	I820F	probably benign	Het
Trafd1	A	G	5: 121,511,520 (GRCm39)	Y433H	probably damaging	Het
Trim68	A	G	7: 102,328,038 (GRCm39)	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,514,480 (GRCm39)	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,626 (GRCm39)	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,661,624 (GRCm39)	I457V	probably benign	Het

Other mutations in Cers4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Cers4	APN	8	4,571,216 (GRCm39)	missense	probably benign	0.13
IGL02407:Cers4	APN	8	4,570,306 (GRCm39)	nonsense	probably null
IGL03244:Cers4	APN	8	4,566,878 (GRCm39)	missense	probably damaging	0.99
Radlauer	UTSW	8	4,569,475 (GRCm39)	missense	probably damaging	1.00
willis	UTSW	8	4,568,269 (GRCm39)	nonsense	probably null
R1170:Cers4	UTSW	8	4,569,475 (GRCm39)	missense	probably damaging	1.00
R1177:Cers4	UTSW	8	4,566,931 (GRCm39)	missense	probably null	0.00
R1346:Cers4	UTSW	8	4,565,632 (GRCm39)	missense	probably damaging	1.00
R1506:Cers4	UTSW	8	4,570,557 (GRCm39)	missense	probably benign	0.30
R1652:Cers4	UTSW	8	4,566,908 (GRCm39)	splice site	probably null
R1819:Cers4	UTSW	8	4,571,232 (GRCm39)	missense	probably benign	0.00
R1952:Cers4	UTSW	8	4,573,461 (GRCm39)	nonsense	probably null
R3790:Cers4	UTSW	8	4,568,285 (GRCm39)	missense	possibly damaging	0.87
R4342:Cers4	UTSW	8	4,571,223 (GRCm39)	missense	probably damaging	1.00
R5001:Cers4	UTSW	8	4,565,565 (GRCm39)	missense	probably benign	0.33
R5338:Cers4	UTSW	8	4,565,680 (GRCm39)	missense	probably damaging	0.98
R5785:Cers4	UTSW	8	4,566,992 (GRCm39)	critical splice donor site	probably null
R6315:Cers4	UTSW	8	4,566,980 (GRCm39)	missense	probably benign	0.02
R6891:Cers4	UTSW	8	4,573,731 (GRCm39)	missense	probably damaging	0.99
R7554:Cers4	UTSW	8	4,565,718 (GRCm39)	missense	probably benign
R7921:Cers4	UTSW	8	4,565,704 (GRCm39)	missense	probably damaging	0.97
R8368:Cers4	UTSW	8	4,565,698 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTAGGGTAGTGTCCTAC -3'
(R):5'- GGCTCACATCTCAGGGAATC -3'

Sequencing Primer
(F):5'- TCAGGTAACAGTCCATTGCTGAG -3'
(R):5'- TCTGGGAAGGGAAGGACCTC -3'

Posted On

2017-06-26