Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:D930048N14Rik'

165442

Institutional Source

Beutler Lab

Gene Symbol

D930048N14Rik

Ensembl Gene

ENSMUSG00000052563

Gene Name

RIKEN cDNA D930048N14 gene

Synonyms

MMRRC Submission

039519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51541781-51548508 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 51545740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]

AlphaFold

A2AA67

Predicted Effect

probably benign
Transcript: ENSMUST00000001080

SMART Domains

Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053

Domain	Start	End	E-Value	Type
low complexity region	176	207	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
coiled coil region	295	334	N/A	INTRINSIC
Pfam:Fez1	359	442	2.3e-21	PFAM
Pfam:Fez1	433	519	4e-23	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000064493
AA Change: T211A

SMART Domains

Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: T211A

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117859

SMART Domains

Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142721

Predicted Effect

probably benign
Transcript: ENSMUST00000156835

Coding Region Coverage

1x: 99.2%
3x: 97.3%
10x: 87.6%
20x: 63.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,651,866 (GRCm39)	Y121H	probably damaging	Het
Abca13	G	T	11: 9,349,303 (GRCm39)	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,174,973 (GRCm39)	Y192H	probably damaging	Het
Afm	A	T	5: 90,698,200 (GRCm39)	D534V	probably damaging	Het
Agl	T	C	3: 116,565,021 (GRCm39)	E1076G	probably benign	Het
Ahcyl	T	C	16: 45,974,211 (GRCm39)	K389E	probably benign	Het
Angptl3	A	T	4: 98,925,757 (GRCm39)	H361L	probably benign	Het
Apob	T	C	12: 8,061,421 (GRCm39)	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,674,730 (GRCm39)	C376S	possibly damaging	Het
Ass1	A	G	2: 31,410,428 (GRCm39)	*413W	probably null	Het
Atp6v1h	T	A	1: 5,165,911 (GRCm39)	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,671,870 (GRCm39)	S14F	probably damaging	Het
Bhmt1b	T	G	18: 87,775,382 (GRCm39)	F302V	probably damaging	Het
Birc6	G	A	17: 74,930,853 (GRCm39)	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,112,941 (GRCm39)	A589T	possibly damaging	Het
Casp9	C	A	4: 141,533,151 (GRCm39)	T252K	probably benign	Het
Cct4	G	A	11: 22,952,922 (GRCm39)	D533N	probably damaging	Het
Clcn6	A	C	4: 148,098,358 (GRCm39)	I555S	probably damaging	Het
Col4a4	A	T	1: 82,475,543 (GRCm39)		probably null	Het
Cyp2d10	A	T	15: 82,288,129 (GRCm39)		probably null	Het
Dlg5	T	C	14: 24,204,764 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,002,430 (GRCm39)	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,916,088 (GRCm39)	E17G	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,580,618 (GRCm39)	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034 (GRCm39)	S212P	probably damaging	Het
Ephb6	T	C	6: 41,593,040 (GRCm39)	F426S	probably damaging	Het
F5	A	T	1: 164,026,402 (GRCm39)	D1658V	probably benign	Het
Faah	A	T	4: 115,856,755 (GRCm39)	V469E	probably damaging	Het
Fas	T	C	19: 34,294,013 (GRCm39)	C123R	probably damaging	Het
Fhod1	T	C	8: 106,065,546 (GRCm39)		probably benign	Het
Filip1	A	G	9: 79,805,589 (GRCm39)	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197 (GRCm39)	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,034,806 (GRCm39)	G87S	probably damaging	Het
Golga3	T	C	5: 110,357,744 (GRCm39)	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,915,812 (GRCm39)	T281A	probably benign	Het
Grap2	T	A	15: 80,532,612 (GRCm39)		probably null	Het
Hlcs	T	C	16: 94,069,151 (GRCm39)	D170G	probably damaging	Het
Hook1	A	G	4: 95,901,493 (GRCm39)	T484A	probably benign	Het
Hoxa5	T	A	6: 52,180,771 (GRCm39)	H187L	probably benign	Het
Inpp1	G	T	1: 52,829,253 (GRCm39)	S255R	probably benign	Het
Inpp4b	T	A	8: 82,494,786 (GRCm39)	V67E	probably damaging	Het
Iqgap3	A	G	3: 87,994,616 (GRCm39)	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,539,692 (GRCm39)		probably null	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Klk1b24	C	A	7: 43,840,785 (GRCm39)	T71N	probably benign	Het
Loxhd1	A	G	18: 77,468,269 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,001,071 (GRCm39)	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,478,272 (GRCm39)	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,344,829 (GRCm39)	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,547,533 (GRCm39)	N150S	probably benign	Het
Lrrn4	C	A	2: 132,713,995 (GRCm39)	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,860,074 (GRCm39)	S627G	probably damaging	Het
Macf1	A	T	4: 123,386,947 (GRCm39)	S1224T	probably damaging	Het
Meis2	A	C	2: 115,889,151 (GRCm39)	H200Q	probably benign	Het
Mesd	C	A	7: 83,544,790 (GRCm39)	A80E	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Myo3a	T	C	2: 22,467,939 (GRCm39)	F398L	probably benign	Het
Nanp	A	G	2: 150,872,749 (GRCm39)	C60R	probably benign	Het
Nectin2	T	G	7: 19,464,041 (GRCm39)	M313L	probably benign	Het
Nek4	C	T	14: 30,678,844 (GRCm39)	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,299,607 (GRCm39)	V371A	probably damaging	Het
Or11g7	A	G	14: 50,690,634 (GRCm39)	T42A	possibly damaging	Het
Or13c7b	A	G	4: 43,820,723 (GRCm39)	F213L	probably benign	Het
Or52n4	T	C	7: 104,294,153 (GRCm39)	N140S	probably benign	Het
Or5b109	T	A	19: 13,212,265 (GRCm39)	V217E	possibly damaging	Het
Pcdh20	T	A	14: 88,706,673 (GRCm39)	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,637,750 (GRCm39)	R92H	probably damaging	Het
Pgap1	T	C	1: 54,567,714 (GRCm39)	H377R	probably benign	Het
Phyhipl	G	T	10: 70,406,798 (GRCm39)	P52Q	probably damaging	Het
Pwwp2a	T	A	11: 43,596,383 (GRCm39)	V516E	possibly damaging	Het
Rack1	T	C	11: 48,692,586 (GRCm39)	V69A	probably damaging	Het
Rexo5	T	A	7: 119,400,581 (GRCm39)		probably null	Het
Rock1	G	T	18: 10,072,863 (GRCm39)	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,560,266 (GRCm39)	L568P	probably damaging	Het
Seh1l	T	C	18: 67,917,054 (GRCm39)	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,083,573 (GRCm39)		probably null	Het
Setd1a	T	C	7: 127,387,512 (GRCm39)		probably benign	Het
Setx	G	T	2: 29,030,401 (GRCm39)		probably null	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shc2	G	T	10: 79,467,136 (GRCm39)	R146S	probably damaging	Het
Skap2	T	C	6: 51,886,348 (GRCm39)	T5A	probably benign	Het
Slc35a3	T	C	3: 116,480,983 (GRCm39)	I93M	probably benign	Het
Sohlh1	C	T	2: 25,733,359 (GRCm39)	G295D	probably damaging	Het
Sult2a8	A	C	7: 14,150,208 (GRCm39)	C168G	probably benign	Het
Tbc1d4	T	C	14: 101,685,124 (GRCm39)	I1176V	possibly damaging	Het
Thada	A	T	17: 84,744,104 (GRCm39)	F735I	possibly damaging	Het
Tle1	A	C	4: 72,058,068 (GRCm39)	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,044,155 (GRCm39)	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,171,668 (GRCm39)	C95F	probably damaging	Het
Uspl1	T	C	5: 149,150,842 (GRCm39)	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,917,935 (GRCm39)	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,368,195 (GRCm39)	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 9,834,249 (GRCm39)	I263T	probably damaging	Het
Zfp937	T	A	2: 150,080,967 (GRCm39)	C332*	probably null	Het
Zscan21	T	A	5: 138,123,470 (GRCm39)	S50T	probably benign	Het

Other mutations in D930048N14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01090:D930048N14Rik	APN	11	51,544,610 (GRCm39)	unclassified	probably benign
IGL01347:D930048N14Rik	APN	11	51,545,615 (GRCm39)	unclassified	probably benign
IGL01419:D930048N14Rik	APN	11	51,545,603 (GRCm39)	unclassified	probably benign
IGL02696:D930048N14Rik	APN	11	51,544,821 (GRCm39)	unclassified	probably benign
R0513:D930048N14Rik	UTSW	11	51,545,755 (GRCm39)	unclassified	probably benign
R1465:D930048N14Rik	UTSW	11	51,545,740 (GRCm39)	unclassified	probably benign
R1649:D930048N14Rik	UTSW	11	51,545,663 (GRCm39)	unclassified	probably benign
R1852:D930048N14Rik	UTSW	11	51,544,692 (GRCm39)	unclassified	probably benign
R3421:D930048N14Rik	UTSW	11	51,545,785 (GRCm39)	makesense	probably null
R3422:D930048N14Rik	UTSW	11	51,545,785 (GRCm39)	makesense	probably null
R4210:D930048N14Rik	UTSW	11	51,545,632 (GRCm39)	unclassified	probably benign
R5701:D930048N14Rik	UTSW	11	51,544,556 (GRCm39)	splice site	probably null
R6656:D930048N14Rik	UTSW	11	51,544,576 (GRCm39)	unclassified	probably benign
R8431:D930048N14Rik	UTSW	11	51,541,946 (GRCm39)	frame shift	probably null
R8505:D930048N14Rik	UTSW	11	51,541,946 (GRCm39)	frame shift	probably null
R8758:D930048N14Rik	UTSW	11	51,544,568 (GRCm39)	missense	unknown
R9061:D930048N14Rik	UTSW	11	51,545,734 (GRCm39)	missense	unknown
R9164:D930048N14Rik	UTSW	11	51,545,609 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGTACACCTCAGAGCTAGAGGGC -3'
(R):5'- TAGGACCCTTACTGACTTGGGCAC -3'

Sequencing Primer
(F):5'- TTGGGGATCAGAGGCCATC -3'
(R):5'- ACACCCAGGGAATCTGGTTT -3'

Posted On

2014-03-28