Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:C87436'

427725

Institutional Source

Beutler Lab

Gene Symbol

C87436

Ensembl Gene

ENSMUSG00000046679

Gene Name

expressed sequence C87436

Synonyms

MMRRC Submission

042985-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86438374-86473500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86465850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 458 (Y458C)

Ref Sequence

ENSEMBL: ENSMUSP00000109328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050497
AA Change: Y468C

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

SMART Domains

Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: Y468C

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	1.1e-22	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113698
AA Change: Y458C

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

SMART Domains

Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: Y458C

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	1e-22	PFAM
low complexity region	278	290	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113700
AA Change: Y468C

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

SMART Domains

Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: Y468C

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	16	57	1.3e-22	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129343

Predicted Effect

probably benign
Transcript: ENSMUST00000133753

SMART Domains

Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	6.2e-23	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141972

SMART Domains

Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	6.2e-23	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154066

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,907,596 (GRCm38)	E689D	probably damaging	Het
Acsl6	A	G	11: 54,337,171 (GRCm38)	E339G	probably benign	Het
Adcy3	G	A	12: 4,209,308 (GRCm38)	E861K	probably damaging	Het
Adrm1	C	T	2: 180,176,137 (GRCm38)	T394I	probably benign	Het
Adsl	T	A	15: 80,952,183 (GRCm38)		probably null	Het
Asxl3	T	A	18: 22,524,494 (GRCm38)	C1854S	probably damaging	Het
Cacna1e	T	C	1: 154,465,779 (GRCm38)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,276,092 (GRCm38)	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,964,376 (GRCm38)	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,723 (GRCm38)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,693,899 (GRCm38)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,413,900 (GRCm38)	T115A	probably benign	Het
Clptm1	C	A	7: 19,633,816 (GRCm38)		probably benign	Het
Col24a1	A	T	3: 145,315,025 (GRCm38)	R386*	probably null	Het
Ctsj	G	T	13: 61,004,523 (GRCm38)	L10M	probably damaging	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dhx40	T	C	11: 86,797,691 (GRCm38)	D302G	probably benign	Het
Edrf1	T	C	7: 133,641,402 (GRCm38)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,365,871 (GRCm38)	M248K	probably damaging	Het
Evpl	C	A	11: 116,234,259 (GRCm38)	V126L	probably benign	Het
Fam83d	T	C	2: 158,785,632 (GRCm38)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,303,688 (GRCm38)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,918,802 (GRCm38)	T283I	probably benign	Het
Fuca1	A	G	4: 135,922,980 (GRCm38)	T121A	probably damaging	Het
Gm13941	A	T	2: 111,094,734 (GRCm38)	S175T	unknown	Het
Gpr107	T	A	2: 31,185,548 (GRCm38)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,321,461 (GRCm38)	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,619,150 (GRCm38)	F327L	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665 (GRCm38)	S81A	probably benign	Het
Itgb7	A	T	15: 102,217,309 (GRCm38)	D628E	probably benign	Het
Nwd1	A	G	8: 72,666,694 (GRCm38)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,703,716 (GRCm38)	L50F	probably benign	Het
Or6d14	A	T	6: 116,557,205 (GRCm38)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,356,955 (GRCm38)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,582,935 (GRCm38)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,837,554 (GRCm38)	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,639,748 (GRCm38)	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,805,950 (GRCm38)	L3259P	probably damaging	Het
Prkg2	A	T	5: 98,943,467 (GRCm38)	D641E	probably benign	Het
Psg26	T	C	7: 18,482,600 (GRCm38)	T105A	probably benign	Het
Ptprs	T	C	17: 56,435,724 (GRCm38)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,183,001 (GRCm38)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,015,771 (GRCm38)	C733*	probably null	Het
Serpina1f	T	A	12: 103,693,944 (GRCm38)	K26N	possibly damaging	Het
Sez6l2	T	A	7: 126,961,886 (GRCm38)	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,576,793 (GRCm38)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,376,989 (GRCm38)	S117P	probably benign	Het
Sorl1	A	T	9: 42,002,636 (GRCm38)	C1332*	probably null	Het
Specc1	T	C	11: 62,118,909 (GRCm38)	V497A	probably benign	Het
Tmem204	T	C	17: 25,058,326 (GRCm38)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,147,023 (GRCm38)		probably null	Het
Ttll5	G	A	12: 86,012,828 (GRCm38)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,941,178 (GRCm38)	T681I	probably damaging	Het
Ubqln3	C	T	7: 104,141,672 (GRCm38)	V404I	probably benign	Het
Yeats2	T	C	16: 20,211,569 (GRCm38)	S919P	probably benign	Het
Zfp575	C	T	7: 24,586,722 (GRCm38)	G3D	probably benign	Het
Zfp644	C	T	5: 106,618,428 (GRCm38)		silent	Het

Other mutations in C87436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:C87436	APN	6	86,457,855 (GRCm38)	missense	probably damaging	1.00
IGL01596:C87436	APN	6	86,446,219 (GRCm38)	missense	probably damaging	1.00
IGL02039:C87436	APN	6	86,453,695 (GRCm38)	missense	probably benign	0.40
IGL02798:C87436	APN	6	86,446,202 (GRCm38)	missense	probably benign	0.01
R0008:C87436	UTSW	6	86,446,283 (GRCm38)	unclassified	probably benign
R0128:C87436	UTSW	6	86,469,827 (GRCm38)	missense	probably damaging	1.00
R0445:C87436	UTSW	6	86,449,850 (GRCm38)	missense	possibly damaging	0.77
R0970:C87436	UTSW	6	86,447,328 (GRCm38)	missense	probably damaging	0.99
R1125:C87436	UTSW	6	86,447,362 (GRCm38)	missense	probably benign	0.00
R1310:C87436	UTSW	6	86,445,450 (GRCm38)	missense	possibly damaging	0.78
R1640:C87436	UTSW	6	86,446,251 (GRCm38)	missense	probably damaging	0.99
R1764:C87436	UTSW	6	86,453,612 (GRCm38)	missense	possibly damaging	0.92
R2213:C87436	UTSW	6	86,445,473 (GRCm38)	missense	probably benign	0.04
R2275:C87436	UTSW	6	86,445,600 (GRCm38)	missense	probably damaging	1.00
R3947:C87436	UTSW	6	86,446,186 (GRCm38)	missense	probably damaging	1.00
R5604:C87436	UTSW	6	86,447,355 (GRCm38)	missense	probably benign	0.01
R5982:C87436	UTSW	6	86,445,975 (GRCm38)	missense	possibly damaging	0.87
R6171:C87436	UTSW	6	86,445,467 (GRCm38)	missense	probably benign	0.04
R6744:C87436	UTSW	6	86,446,064 (GRCm38)	missense	probably damaging	1.00
R7215:C87436	UTSW	6	86,462,680 (GRCm38)	missense	possibly damaging	0.80
R7253:C87436	UTSW	6	86,465,808 (GRCm38)	missense	probably damaging	1.00
R7876:C87436	UTSW	6	86,446,429 (GRCm38)	splice site	probably null
R8035:C87436	UTSW	6	86,447,355 (GRCm38)	missense	probably benign	0.01
R8312:C87436	UTSW	6	86,457,831 (GRCm38)	missense	probably damaging	1.00
R8919:C87436	UTSW	6	86,445,792 (GRCm38)	missense	probably damaging	1.00
R9091:C87436	UTSW	6	86,465,831 (GRCm38)	missense	probably benign	0.00
R9099:C87436	UTSW	6	86,462,585 (GRCm38)	missense	probably damaging	1.00
R9208:C87436	UTSW	6	86,446,245 (GRCm38)	missense	probably benign	0.16
R9270:C87436	UTSW	6	86,465,831 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTCCCAAAGAAGCCTGAG -3'
(R):5'- TTTGATGAAGGACCAGACCC -3'

Sequencing Primer
(F):5'- GCAATACCTAGGTGCAGTCATGTC -3'
(R):5'- CAGAGCCTCAGAACGGAGCTC -3'

Posted On

2016-09-01