Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:C87977'

585303

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144212955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 4 (C4F)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]

AlphaFold

A2A958

Predicted Effect

probably damaging
Transcript: ENSMUST00000105753
AA Change: C4F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105754
AA Change: C4F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105755

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	52	250	9e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: C4F

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

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: C4F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	420	1e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably benign
Transcript: ENSMUST00000147855

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,123,089	E681K	possibly damaging	Het
Accsl	A	T	2: 93,858,156	M411K	possibly damaging	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Bag4	G	A	8: 25,777,479	R108*	probably null	Het
BC037034	C	A	5: 138,262,842		probably null	Het
C130060K24Rik	G	T	6: 65,452,907	E196*	probably null	Het
Cpa1	C	T	6: 30,641,768	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,541,019	V50A	probably benign	Het
Dact1	A	G	12: 71,318,551	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,541,523	V499I	probably damaging	Het
Depdc5	T	G	5: 32,901,510	I274M	probably damaging	Het
Dnah3	T	A	7: 119,971,594	Q2219L	probably benign	Het
Ect2	A	T	3: 27,116,123		probably benign	Het
Efcab14	C	A	4: 115,759,962	S289R	probably benign	Het
Fmn2	T	C	1: 174,609,574	L1037P	unknown	Het
Fsip2	G	A	2: 82,989,017	M5031I	probably benign	Het
Gm19410	A	G	8: 35,806,997	M1435V	probably benign	Het
Gm8005	G	T	14: 42,439,542	Q44K		Het
Hdgfl2	T	A	17: 56,099,860	D591E	unknown	Het
Hk3	C	A	13: 55,011,396	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,655,835	M3228V	probably benign	Het
Kifap3	C	T	1: 163,915,768	R773C	probably damaging	Het
Kndc1	T	C	7: 139,920,696	V659A	probably benign	Het
Lhb	C	T	7: 45,421,677	R109C	probably damaging	Het
Lnpep	A	G	17: 17,578,592	I267T	probably benign	Het
Lypla1	T	A	1: 4,808,367		probably null	Het
Map3k21	T	C	8: 125,927,708		probably null	Het
Mapkbp1	A	G	2: 120,013,751	T319A	probably benign	Het
Mms19	T	C	19: 41,947,016	T854A	probably benign	Het
Mphosph8	A	G	14: 56,674,038	T173A	probably benign	Het
Mtcl1	C	T	17: 66,371,327	R668H	probably benign	Het
Myo5b	G	A	18: 74,634,511	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,024,396	L412Q	probably damaging	Het
Nrtn	T	C	17: 56,751,473	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,362,906	Q1134K	possibly damaging	Het
Olfr574	C	T	7: 102,949,266	P267L	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Pick1	T	C	15: 79,255,581	V360A	unknown	Het
Pigr	T	A	1: 130,841,666	N71K	possibly damaging	Het
Ppox	T	C	1: 171,280,191	N96S	probably benign	Het
Rasa1	T	C	13: 85,228,708	T603A	probably benign	Het
Rhd	T	C	4: 134,876,459	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,882,604	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,911,560	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,151,144	T581A	probably benign	Het
Slc36a2	A	G	11: 55,162,672	I380T	probably benign	Het
Slc36a4	T	A	9: 15,726,812	V178D	probably damaging	Het
Smad7	C	A	18: 75,393,835	L251I	probably benign	Het
Sspo	G	A	6: 48,449,500	S151N	probably benign	Het
St3gal4	C	T	9: 35,052,253	R253Q	probably benign	Het
Ttbk1	T	C	17: 46,476,931	I242V	possibly damaging	Het
Ttn	G	A	2: 76,968,520	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,438,105	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,951,540	C514*	probably null	Het
Zfp236	A	T	18: 82,644,241	C570*	probably null	Het
Zfp277	T	A	12: 40,329,595	R313S	probably damaging	Het
Zfp329	A	T	7: 12,811,040	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,515,027		probably benign	Het

Other mutations in C87977

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:C87977	APN	4	144208475	missense	possibly damaging	0.58
IGL02950:C87977	APN	4	144212961	missense	probably benign	0.06
IGL03174:C87977	APN	4	144208430	missense	probably benign
IGL03178:C87977	APN	4	144208251	critical splice donor site	probably null
PIT4812001:C87977	UTSW	4	144209516	missense	probably benign
R0622:C87977	UTSW	4	144213013	unclassified	probably benign
R0634:C87977	UTSW	4	144209340	critical splice donor site	probably null
R1127:C87977	UTSW	4	144207124	missense	probably damaging	1.00
R1341:C87977	UTSW	4	144207559	missense	probably damaging	1.00
R1697:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R1827:C87977	UTSW	4	144209610	missense	probably damaging	0.99
R1857:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
R2859:C87977	UTSW	4	144209622	missense	probably benign	0.11
R4063:C87977	UTSW	4	144208695	missense	possibly damaging	0.87
R4114:C87977	UTSW	4	144209603	missense	probably damaging	1.00
R4130:C87977	UTSW	4	144208809	missense	probably damaging	0.99
R4255:C87977	UTSW	4	144207484	missense	possibly damaging	0.68
R4704:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R4840:C87977	UTSW	4	144208574	missense	probably damaging	0.98
R5267:C87977	UTSW	4	144213005	unclassified	probably benign
R5670:C87977	UTSW	4	144209622	missense	probably benign	0.11
R6149:C87977	UTSW	4	144207413	missense	probably damaging	0.98
R6508:C87977	UTSW	4	144207601	nonsense	probably null
R6528:C87977	UTSW	4	144208811	missense	probably damaging	0.99
R7252:C87977	UTSW	4	144212940	missense	possibly damaging	0.95
R7704:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
R8737:C87977	UTSW	4	144208622	missense	probably damaging	1.00
R9703:C87977	UTSW	4	144212940	missense	probably damaging	0.97
Z1176:C87977	UTSW	4	144207461	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCTAGGATTGAGGTCAAGCAATC -3'
(R):5'- AGATCTGGTCCAATTTACCTACAC -3'

Sequencing Primer
(F):5'- AATCTTGCCTAGAAATAACTGATCTC -3'
(R):5'- TGGAGACACAATGATGGAGACTC -3'

Posted On

2019-10-17