Mutagenetix > Incidental Mutation

Incidental Mutation 'R5660:Mrnip'

501324

Institutional Source

Beutler Lab

Gene Symbol

Mrnip

Ensembl Gene

ENSMUSG00000020381

Gene Name

MRN complex interacting protein

Synonyms

3010026O09Rik

MMRRC Submission

043173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50065678-50090943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50087918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 147 (R147G)

Ref Sequence

ENSEMBL: ENSMUSP00000020647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000020647] [ENSMUST00000102774] [ENSMUST00000123164] [ENSMUST00000136936] [ENSMUST00000143379]

AlphaFold

Q9D1F5

Predicted Effect

probably benign
Transcript: ENSMUST00000015981

SMART Domains

Protein: ENSMUSP00000015981
Gene: ENSMUSG00000015837

Domain	Start	End	E-Value	Type
PB1	3	102	1.96e-14	SMART
ZnF_ZZ	122	165	8.62e-19	SMART
low complexity region	269	281	N/A	INTRINSIC
UBA	358	397	9.33e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000020647
AA Change: R147G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102774

SMART Domains

Protein: ENSMUSP00000099835
Gene: ENSMUSG00000015837

Domain	Start	End	E-Value	Type
PB1	3	102	1.96e-14	SMART
ZnF_ZZ	122	165	8.62e-19	SMART
low complexity region	269	281	N/A	INTRINSIC
UBA	396	435	9.33e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123164

Predicted Effect

probably benign
Transcript: ENSMUST00000136936

SMART Domains

Protein: ENSMUSP00000120442
Gene: ENSMUSG00000015837

Domain	Start	End	E-Value	Type
UBA	63	102	9.33e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143379

SMART Domains

Protein: ENSMUSP00000118662
Gene: ENSMUSG00000015837

Domain	Start	End	E-Value	Type
PB1	3	102	1.96e-14	SMART
ZnF_ZZ	122	165	8.62e-19	SMART
low complexity region	269	281	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,828 (GRCm39)	N1307S	probably benign	Het
Abcf1	A	T	17: 36,274,539 (GRCm39)	D41E	possibly damaging	Het
Adamts13	T	C	2: 26,886,761 (GRCm39)	V966A	probably benign	Het
Adamts2	A	T	11: 50,667,472 (GRCm39)	D470V	probably damaging	Het
Adar	T	C	3: 89,642,901 (GRCm39)	F261L	probably damaging	Het
Akap3	C	T	6: 126,842,254 (GRCm39)	A291V	probably damaging	Het
Akr1c6	G	A	13: 4,499,053 (GRCm39)	V214I	probably benign	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Arhgap11a	T	A	2: 113,672,255 (GRCm39)	I238F	possibly damaging	Het
Atg2b	A	T	12: 105,615,383 (GRCm39)	Y1024*	probably null	Het
Cad	T	A	5: 31,234,191 (GRCm39)	D1956E	probably damaging	Het
Cbs	A	T	17: 31,843,220 (GRCm39)	I237N	probably damaging	Het
Ccdc81	T	C	7: 89,542,337 (GRCm39)	T180A	probably benign	Het
Cftr	T	A	6: 18,313,686 (GRCm39)	N1303K	probably benign	Het
Col6a4	A	G	9: 105,873,315 (GRCm39)	S2227P	probably benign	Het
Crebbp	A	T	16: 3,972,722 (GRCm39)	M324K	possibly damaging	Het
Dst	A	G	1: 34,321,574 (GRCm39)	K4363R	probably damaging	Het
Eif2b4	A	T	5: 31,348,500 (GRCm39)	Y238N	probably benign	Het
Fam83c	G	A	2: 155,671,509 (GRCm39)	A642V	probably benign	Het
Fat2	T	A	11: 55,175,002 (GRCm39)	T1904S	probably benign	Het
Flt3	T	C	5: 147,306,291 (GRCm39)	N279S	possibly damaging	Het
Galnt4	A	G	10: 98,945,397 (GRCm39)	N374S	probably benign	Het
Gm14401	T	A	2: 176,778,224 (GRCm39)	H103Q	probably damaging	Het
Gm5422	A	T	10: 31,126,048 (GRCm39)		noncoding transcript	Het
Helb	G	A	10: 119,946,984 (GRCm39)	Q110*	probably null	Het
Ido1	T	C	8: 25,081,558 (GRCm39)	D41G	probably damaging	Het
Igfn1	A	G	1: 135,898,152 (GRCm39)	S805P	probably benign	Het
Matr3	C	A	18: 35,705,147 (GRCm39)	A24E	probably damaging	Het
Mmp23	C	T	4: 155,735,710 (GRCm39)	C287Y	probably damaging	Het
Msh6	A	G	17: 88,292,147 (GRCm39)	K301E	possibly damaging	Het
Or12d13	A	G	17: 37,647,535 (GRCm39)	L196P	probably damaging	Het
Or8g4	G	A	9: 39,662,063 (GRCm39)	C127Y	probably damaging	Het
Ptar1	T	A	19: 23,671,776 (GRCm39)	C60S	probably benign	Het
Rora	A	G	9: 68,561,203 (GRCm39)	S11G	probably benign	Het
Rps6ka5	G	T	12: 100,585,839 (GRCm39)	H151Q	possibly damaging	Het
Sgsh	A	G	11: 119,241,807 (GRCm39)	S100P	probably damaging	Het
Simc1	A	G	13: 54,694,902 (GRCm39)	T1229A	probably benign	Het
Slc26a11	T	C	11: 119,248,804 (GRCm39)	Y62H	probably damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Smg1	C	T	7: 117,742,570 (GRCm39)	V3215I	probably benign	Het
Smyd2	G	A	1: 189,617,579 (GRCm39)	P285L	possibly damaging	Het
Themis2	T	C	4: 132,523,567 (GRCm39)		probably null	Het
Tln1	A	G	4: 43,547,732 (GRCm39)	V743A	probably damaging	Het
Tpo	T	A	12: 30,150,495 (GRCm39)	N462Y	possibly damaging	Het
Wnt2	T	A	6: 18,028,145 (GRCm39)	M30L	probably benign	Het
Zfyve9	T	C	4: 108,576,365 (GRCm39)	I239V	probably benign	Het

Other mutations in Mrnip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Mrnip	APN	11	50,088,462 (GRCm39)	missense	probably damaging	0.99
IGL01836:Mrnip	APN	11	50,090,675 (GRCm39)	missense	probably benign	0.01
IGL02080:Mrnip	APN	11	50,088,502 (GRCm39)	missense	probably benign	0.00
IGL03059:Mrnip	APN	11	50,090,596 (GRCm39)	missense	probably damaging	1.00
IGL03381:Mrnip	APN	11	50,090,417 (GRCm39)	missense	probably benign
R0391:Mrnip	UTSW	11	50,090,747 (GRCm39)	missense	probably damaging	0.99
R1388:Mrnip	UTSW	11	50,087,772 (GRCm39)	missense	probably benign	0.02
R1561:Mrnip	UTSW	11	50,067,676 (GRCm39)	missense	probably damaging	1.00
R1736:Mrnip	UTSW	11	50,067,718 (GRCm39)	splice site	probably null
R1768:Mrnip	UTSW	11	50,067,688 (GRCm39)	missense	probably damaging	1.00
R6505:Mrnip	UTSW	11	50,090,679 (GRCm39)	missense	possibly damaging	0.92
R6803:Mrnip	UTSW	11	50,090,730 (GRCm39)	missense	probably benign
R7290:Mrnip	UTSW	11	50,087,808 (GRCm39)	missense	possibly damaging	0.71
R7735:Mrnip	UTSW	11	50,087,800 (GRCm39)	nonsense	probably null
R8197:Mrnip	UTSW	11	50,090,607 (GRCm39)	missense	probably benign
R8462:Mrnip	UTSW	11	50,090,654 (GRCm39)	missense	probably benign	0.31
R8826:Mrnip	UTSW	11	50,067,688 (GRCm39)	missense	probably damaging	1.00
R9009:Mrnip	UTSW	11	50,073,323 (GRCm39)	missense	probably damaging	1.00
R9106:Mrnip	UTSW	11	50,065,768 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCTGAGATCTGCCTTTTGC -3'
(R):5'- CCACTGATTACTTTGGCCACAC -3'

Sequencing Primer
(F):5'- GAGATCTGCCTTTTGCTCTGC -3'
(R):5'- ATGGCCAGCCTTGAACTCATG -3'

Posted On

2017-12-01