Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:1700030K09Rik'

372420

Institutional Source

Beutler Lab

Gene Symbol

1700030K09Rik

Ensembl Gene

ENSMUSG00000052794

Gene Name

RIKEN cDNA 1700030K09 gene

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72443880-72461001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72455423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 466 (S466P)

Ref Sequence

ENSEMBL: ENSMUSP00000063244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064853] [ENSMUST00000121902]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064853
AA Change: S466P

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: S466P

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	421	432	N/A	INTRINSIC
Pfam:DUF4614	438	608	2e-71	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121902
AA Change: S432P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: S432P

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
Pfam:DUF4614	400	575	1.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139130

Meta Mutation Damage Score

0.0787

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,888,655 (GRCm38)	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145 (GRCm38)	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866 (GRCm38)	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499 (GRCm38)	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927 (GRCm38)	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368 (GRCm38)	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491 (GRCm38)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674 (GRCm38)	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066 (GRCm38)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095 (GRCm38)	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720 (GRCm38)	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700 (GRCm38)	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396 (GRCm38)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm38)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167 (GRCm38)	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548 (GRCm38)	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146 (GRCm38)	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191 (GRCm38)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232 (GRCm38)	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000 (GRCm38)	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500 (GRCm38)	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516 (GRCm38)	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189 (GRCm38)	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295 (GRCm38)	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846 (GRCm38)	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896 (GRCm38)	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674 (GRCm38)	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469 (GRCm38)		probably null	Het
Fcho1	C	T	8: 71,710,481 (GRCm38)	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908 (GRCm38)	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753 (GRCm38)	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508 (GRCm38)	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436 (GRCm38)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818 (GRCm38)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842 (GRCm38)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050 (GRCm38)	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810 (GRCm38)	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337 (GRCm38)	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052 (GRCm38)	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824 (GRCm38)	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750 (GRCm38)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619 (GRCm38)	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640 (GRCm38)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926 (GRCm38)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280 (GRCm38)	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647 (GRCm38)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592 (GRCm38)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,635,194 (GRCm38)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547 (GRCm38)	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456 (GRCm38)	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957 (GRCm38)	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225 (GRCm38)	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504 (GRCm38)	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456 (GRCm38)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710 (GRCm38)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156 (GRCm38)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378 (GRCm38)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993 (GRCm38)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514 (GRCm38)	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606 (GRCm38)	N177K	probably benign	Het
Reln	A	G	5: 21,901,751 (GRCm38)	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536 (GRCm38)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744 (GRCm38)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935 (GRCm38)	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602 (GRCm38)	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064 (GRCm38)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883 (GRCm38)	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209 (GRCm38)	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504 (GRCm38)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005 (GRCm38)	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211 (GRCm38)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589 (GRCm38)	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474 (GRCm38)	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795 (GRCm38)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840 (GRCm38)	G504S	probably null	Het
Tle4	A	T	19: 14,464,345 (GRCm38)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm38)	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055 (GRCm38)		probably benign	Het
Tubgcp3	T	C	8: 12,649,722 (GRCm38)	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275 (GRCm38)	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363 (GRCm38)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756 (GRCm38)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803 (GRCm38)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601 (GRCm38)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843 (GRCm38)	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161 (GRCm38)	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785 (GRCm38)	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340 (GRCm38)	C339*	probably null	Het

Other mutations in 1700030K09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:1700030K09Rik	APN	8	72,455,349 (GRCm38)	missense	probably damaging	1.00
IGL01010:1700030K09Rik	APN	8	72,445,215 (GRCm38)	missense	probably damaging	0.98
IGL01449:1700030K09Rik	APN	8	72,444,849 (GRCm38)	missense	probably benign	0.10
IGL01714:1700030K09Rik	APN	8	72,455,569 (GRCm38)	critical splice donor site	probably null
IGL03256:1700030K09Rik	APN	8	72,445,199 (GRCm38)	missense	probably benign	0.01
IGL03275:1700030K09Rik	APN	8	72,445,124 (GRCm38)	missense	probably damaging	1.00
R0417:1700030K09Rik	UTSW	8	72,445,400 (GRCm38)	missense	probably damaging	0.97
R0501:1700030K09Rik	UTSW	8	72,455,372 (GRCm38)	missense	probably benign	0.01
R1444:1700030K09Rik	UTSW	8	72,451,386 (GRCm38)	missense	probably damaging	1.00
R1556:1700030K09Rik	UTSW	8	72,449,633 (GRCm38)	missense	probably damaging	1.00
R2153:1700030K09Rik	UTSW	8	72,455,115 (GRCm38)	missense	probably benign	0.01
R2154:1700030K09Rik	UTSW	8	72,455,115 (GRCm38)	missense	probably benign	0.01
R2298:1700030K09Rik	UTSW	8	72,455,403 (GRCm38)	missense	probably benign	0.08
R3743:1700030K09Rik	UTSW	8	72,445,169 (GRCm38)	missense	probably benign	0.41
R4787:1700030K09Rik	UTSW	8	72,445,164 (GRCm38)	nonsense	probably null
R4860:1700030K09Rik	UTSW	8	72,455,423 (GRCm38)	missense	possibly damaging	0.87
R4994:1700030K09Rik	UTSW	8	72,455,118 (GRCm38)	missense	probably benign	0.02
R5857:1700030K09Rik	UTSW	8	72,449,525 (GRCm38)	missense	probably benign	0.04
R6256:1700030K09Rik	UTSW	8	72,451,428 (GRCm38)	missense	probably damaging	1.00
R7129:1700030K09Rik	UTSW	8	72,455,355 (GRCm38)	missense	probably damaging	1.00
R7366:1700030K09Rik	UTSW	8	72,449,459 (GRCm38)	missense	possibly damaging	0.65
R7923:1700030K09Rik	UTSW	8	72,444,911 (GRCm38)	missense	probably damaging	1.00
R8322:1700030K09Rik	UTSW	8	72,445,375 (GRCm38)	missense	probably benign	0.32
R9109:1700030K09Rik	UTSW	8	72,445,079 (GRCm38)	missense	probably benign	0.01
R9298:1700030K09Rik	UTSW	8	72,445,079 (GRCm38)	missense	probably benign	0.01
R9409:1700030K09Rik	UTSW	8	72,458,044 (GRCm38)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CCAAGAATTGTGTGTTTCAGGGC -3'
(R):5'- ACAGCATCATAGGGGTCTACC -3'

Sequencing Primer
(F):5'- ATGGAGAGGGTCTTACCACTG -3'
(R):5'- TCTACCCAGGTTCCCGAAG -3'

Posted On

2016-03-01