Mutagenetix > Incidental Mutation

Incidental Mutation 'R6408:1700028K03Rik'

514531

Institutional Source

Beutler Lab

Gene Symbol

1700028K03Rik

Ensembl Gene

ENSMUSG00000089798

Gene Name

RIKEN cDNA 1700028K03 gene

Synonyms

Spo16, SCRE

MMRRC Submission

044553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107682586-107699415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107691858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 50 (S50P)

Ref Sequence

ENSEMBL: ENSMUSP00000124398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058921] [ENSMUST00000078021] [ENSMUST00000100949] [ENSMUST00000159902] [ENSMUST00000160160]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058921
AA Change: S50P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058373
Gene: ENSMUSG00000089798
AA Change: S50P

Domain	Start	End	E-Value	Type
Pfam:DUF4580	12	173	1.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078021

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	563	5.6e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100949

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	404	1.1e-63	PFAM
Pfam:Kinetochor_Ybp2	402	499	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143074

SMART Domains

Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159902
AA Change: S50P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124574
Gene: ENSMUSG00000089798
AA Change: S50P

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	177	1.4e-80	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160160
AA Change: S50P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631
AA Change: S50P

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	140	1.5e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163064

Meta Mutation Damage Score

0.1191

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.2%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,307 (GRCm39)	V1068A	possibly damaging	Het
Acss1	A	G	2: 150,470,412 (GRCm39)		probably null	Het
Amer2	T	C	14: 60,617,674 (GRCm39)	I497T	probably damaging	Het
Azi2	A	T	9: 117,890,550 (GRCm39)	R51*	probably null	Het
Brdt	A	G	5: 107,533,358 (GRCm39)	D946G	probably damaging	Het
Bzw2	C	T	12: 36,157,524 (GRCm39)	V314I	possibly damaging	Het
Capn13	A	T	17: 73,672,954 (GRCm39)	Y116*	probably null	Het
Clca4b	A	G	3: 144,625,036 (GRCm39)	I485T	probably benign	Het
Crybg3	T	A	16: 59,316,053 (GRCm39)	T1130S	possibly damaging	Het
Cubn	C	T	2: 13,299,014 (GRCm39)	V3220M	probably damaging	Het
Cyp4f16	T	A	17: 32,770,173 (GRCm39)	L514Q	probably damaging	Het
D7Ertd443e	G	T	7: 133,951,440 (GRCm39)	Q31K	probably benign	Het
Dcaf15	T	C	8: 84,831,355 (GRCm39)	E8G	probably benign	Het
Ddx24	A	C	12: 103,391,819 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,066,430 (GRCm39)	M988V	possibly damaging	Het
Dlx4	A	G	11: 95,036,078 (GRCm39)	V77A	probably benign	Het
Dnah3	T	C	7: 119,522,191 (GRCm39)		probably null	Het
Drc1	A	G	5: 30,513,632 (GRCm39)	E396G	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gbp2b	T	C	3: 142,323,899 (GRCm39)	L568S	probably benign	Het
Gjb5	A	T	4: 127,249,940 (GRCm39)	F68Y	probably benign	Het
Hs6st3	C	A	14: 119,376,046 (GRCm39)	P74T	probably benign	Het
Kif26b	T	C	1: 178,745,133 (GRCm39)	L1743P	probably damaging	Het
Lnx1	A	T	5: 74,846,307 (GRCm39)	C48S	probably damaging	Het
Lrfn2	A	G	17: 49,377,654 (GRCm39)	H245R	probably damaging	Het
Lrrc27	A	G	7: 138,798,184 (GRCm39)	E93G	probably benign	Het
Mettl6	T	C	14: 31,201,683 (GRCm39)	E253G	probably damaging	Het
Nmu	A	T	5: 76,491,818 (GRCm39)	F106Y	probably damaging	Het
Pcsk7	T	C	9: 45,820,994 (GRCm39)	I142T	probably benign	Het
Polr3a	A	T	14: 24,536,939 (GRCm39)		probably null	Het
Psmb9	G	T	17: 34,404,707 (GRCm39)	A19E	probably damaging	Het
Pus7l	A	G	15: 94,429,456 (GRCm39)	M454T	probably benign	Het
Raet1e	A	G	10: 22,056,645 (GRCm39)	T74A	probably benign	Het
Ralb	A	C	1: 119,405,839 (GRCm39)	Y43*	probably null	Het
Ralgapa1	C	A	12: 55,730,695 (GRCm39)	E1947*	probably null	Het
Rnf26rt	A	G	6: 76,473,441 (GRCm39)	C392R	probably damaging	Het
Robo1	T	C	16: 72,768,934 (GRCm39)	Y500H	probably benign	Het
Shroom1	A	C	11: 53,354,214 (GRCm39)	T45P	probably benign	Het
Slit2	A	G	5: 48,142,328 (GRCm39)		probably benign	Het
Spmip2	A	G	3: 79,356,706 (GRCm39)	R170G	probably benign	Het
Srgap3	T	C	6: 112,699,967 (GRCm39)	S1004G	probably damaging	Het
Taok2	A	G	7: 126,470,164 (GRCm39)	V888A	probably benign	Het
Tbc1d8	T	A	1: 39,441,980 (GRCm39)	D204V	probably damaging	Het
Thoc2l	A	G	5: 104,666,643 (GRCm39)	I388M	probably benign	Het
Trav7d-4	C	A	14: 53,007,624 (GRCm39)	A39D	probably damaging	Het
Ush2a	G	T	1: 187,999,229 (GRCm39)	E180*	probably null	Het
Vmn1r37	A	G	6: 66,708,563 (GRCm39)	D63G	probably benign	Het
Zfp282	G	A	6: 47,857,319 (GRCm39)	R184Q	probably damaging	Het

Other mutations in 1700028K03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02067:1700028K03Rik	APN	5	107,691,816 (GRCm39)	nonsense	probably null
IGL02152:1700028K03Rik	APN	5	107,695,983 (GRCm39)	missense	probably benign	0.05
PIT4618001:1700028K03Rik	UTSW	5	107,693,575 (GRCm39)	missense	probably damaging	1.00
R0519:1700028K03Rik	UTSW	5	107,696,067 (GRCm39)	missense	probably benign	0.34
R2040:1700028K03Rik	UTSW	5	107,693,607 (GRCm39)	missense	probably benign
R2858:1700028K03Rik	UTSW	5	107,693,667 (GRCm39)	missense	probably benign	0.33
R5618:1700028K03Rik	UTSW	5	107,696,065 (GRCm39)	nonsense	probably null
R7545:1700028K03Rik	UTSW	5	107,696,040 (GRCm39)	missense	probably damaging	1.00
R7911:1700028K03Rik	UTSW	5	107,693,667 (GRCm39)	missense	probably benign	0.01
R9155:1700028K03Rik	UTSW	5	107,691,811 (GRCm39)	missense	probably damaging	0.97
R9523:1700028K03Rik	UTSW	5	107,687,057 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGGTGACCAATCTCTAAGTGG -3'
(R):5'- TCCCACAGTTGGCACTACATC -3'

Sequencing Primer
(F):5'- TGACCAATCTCTAAGTGGAACAGTG -3'
(R):5'- AGTTGGCACTACATCTGCAG -3'

Posted On

2018-05-04