Mutagenetix > Incidental Mutation

Incidental Mutation 'R8051:Gm36864'

619052

Institutional Source

Beutler Lab

Gene Symbol

Gm36864

Ensembl Gene

ENSMUSG00000108622

Gene Name

predicted gene, 36864

Synonyms

MMRRC Submission

067488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R8051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43885601-43892615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43891976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 385 (I385F)

Ref Sequence

ENSEMBL: ENSMUSP00000152432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000107950] [ENSMUST00000137702] [ENSMUST00000223070] [ENSMUST00000145653] [ENSMUST00000146155] [ENSMUST00000185481] [ENSMUST00000187524] [ENSMUST00000188111] [ENSMUST00000205530] [ENSMUST00000222162]

AlphaFold

A0A1Y7VJE6

Predicted Effect

probably benign
Transcript: ENSMUST00000055858

SMART Domains

Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071296

SMART Domains

Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084937

SMART Domains

Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107948

SMART Domains

Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107949

SMART Domains

Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107950

SMART Domains

Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137702

SMART Domains

Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223070
AA Change: I385F

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000145653

Predicted Effect

probably benign
Transcript: ENSMUST00000146155

SMART Domains

Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185481

SMART Domains

Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187524

SMART Domains

Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188111

SMART Domains

Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205530

Predicted Effect

probably benign
Transcript: ENSMUST00000222162

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,750,527 (GRCm39)	L1766Q	probably damaging	Het
Adgrl3	A	G	5: 81,613,113 (GRCm39)	Y114C	probably damaging	Het
Ano9	T	A	7: 140,684,445 (GRCm39)	I472F	probably damaging	Het
Arhgap10	A	G	8: 78,244,309 (GRCm39)	F35S	probably damaging	Het
Bltp2	G	A	11: 78,164,238 (GRCm39)		probably benign	Het
Btnl2	T	A	17: 34,582,473 (GRCm39)	D346E	probably damaging	Het
C4bp	A	T	1: 130,583,705 (GRCm39)	C88S	probably damaging	Het
Cavin2	A	T	1: 51,340,283 (GRCm39)	Q320L	probably benign	Het
Chtf18	C	A	17: 25,942,453 (GRCm39)	V462L	probably benign	Het
Crisp3	A	T	17: 40,543,451 (GRCm39)	S134R	probably benign	Het
Dlg4	C	A	11: 69,922,468 (GRCm39)		probably benign	Het
Dsc3	A	T	18: 20,114,270 (GRCm39)	M328K	probably damaging	Het
Efemp2	T	A	19: 5,526,095 (GRCm39)	D73E	probably damaging	Het
Fbn1	C	T	2: 125,148,383 (GRCm39)	A2622T	possibly damaging	Het
Flt1	T	C	5: 147,519,501 (GRCm39)	H938R	probably benign	Het
Flt3	T	G	5: 147,295,765 (GRCm39)		probably benign	Het
Fnbp4	T	C	2: 90,608,083 (GRCm39)	V935A	possibly damaging	Het
Frem2	T	C	3: 53,442,776 (GRCm39)	N2587S	probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Il17re	G	T	6: 113,436,328 (GRCm39)	R47L	probably benign	Het
Il27ra	A	G	8: 84,760,578 (GRCm39)		probably null	Het
Irf4	A	G	13: 30,945,456 (GRCm39)	I401V	probably damaging	Het
Kat6a	T	C	8: 23,400,265 (GRCm39)	L342S	probably damaging	Het
Klc1	T	A	12: 111,748,384 (GRCm39)	C390S	possibly damaging	Het
Klhl22	A	T	16: 17,610,443 (GRCm39)	I565F	probably damaging	Het
Krt26	A	T	11: 99,228,672 (GRCm39)	L20Q	probably damaging	Het
Lamb3	T	C	1: 193,012,375 (GRCm39)	V384A	possibly damaging	Het
Lmo2	T	A	2: 103,801,045 (GRCm39)	L80Q	possibly damaging	Het
Lrrc37a	T	G	11: 103,393,952 (GRCm39)	E491A	possibly damaging	Het
Ninj1	T	A	13: 49,347,288 (GRCm39)	M51K	probably damaging	Het
Or11g26	C	A	14: 50,753,100 (GRCm39)	N146K	probably benign	Het
Or12d17	G	A	17: 37,777,213 (GRCm39)	G39R	probably damaging	Het
Plppr3	T	A	10: 79,702,838 (GRCm39)	T142S	probably damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Rap1gap2	G	T	11: 74,286,651 (GRCm39)	R550S	probably damaging	Het
Rbm33	A	G	5: 28,557,623 (GRCm39)	N279D	probably damaging	Het
Rhox9	C	T	X: 36,990,253 (GRCm39)	G40R	probably benign	Het
Selplg	G	A	5: 113,957,502 (GRCm39)	T268I	probably damaging	Het
Slc20a1	T	C	2: 129,050,120 (GRCm39)	M426T	possibly damaging	Het
Spata18	A	T	5: 73,827,063 (GRCm39)	Y220F		Het
Spns1	T	C	7: 125,971,708 (GRCm39)	T281A	probably benign	Het
Sptan1	C	T	2: 29,920,171 (GRCm39)	R2288C	probably damaging	Het
Tacstd2	T	C	6: 67,512,383 (GRCm39)	D103G	probably damaging	Het
Tmem121	C	T	12: 113,152,487 (GRCm39)	A235V	probably benign	Het
Try4	A	G	6: 41,281,996 (GRCm39)	D194G	probably damaging	Het
Tyrp1	C	A	4: 80,755,897 (GRCm39)	T222K	probably damaging	Het
Zfp57	T	A	17: 37,320,785 (GRCm39)	V213D	probably damaging	Het
Zfy2	A	T	Y: 2,117,380 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,823 (GRCm39)	G454R	not run	Het

Other mutations in Gm36864

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6445:Gm36864	UTSW	7	43,886,842 (GRCm39)	missense	possibly damaging	0.46
R6699:Gm36864	UTSW	7	43,888,196 (GRCm39)	missense	possibly damaging	0.49
R7852:Gm36864	UTSW	7	43,886,361 (GRCm39)	small deletion	probably benign
R8738:Gm36864	UTSW	7	43,886,304 (GRCm39)	nonsense	probably null
R9019:Gm36864	UTSW	7	43,887,028 (GRCm39)	missense	probably benign	0.03
R9600:Gm36864	UTSW	7	43,886,275 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGTACAGTACCTAGCCTGGG -3'
(R):5'- TCCCTGGATCTGTGGGAAAC -3'

Sequencing Primer
(F):5'- CTGATAGAGCACTTGACTAGAGCAC -3'
(R):5'- GGAAACCCTACCCCGACTC -3'

Posted On

2020-01-23