Mutagenetix > Incidental Mutation

Incidental Mutation 'R8863:9130023H24Rik'

675771

Institutional Source

Beutler Lab

Gene Symbol

9130023H24Rik

Ensembl Gene

ENSMUSG00000062944

Gene Name

RIKEN cDNA 9130023H24 gene

Synonyms

MMRRC Submission

068679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R8863 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127833630-127837203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127836123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 157 (S157P)

Ref Sequence

ENSEMBL: ENSMUSP00000077867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000078816]

AlphaFold

Q8BG98

Predicted Effect

probably benign
Transcript: ENSMUST00000044660

SMART Domains

Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	62	104	N/A	INTRINSIC
ARM	137	179	2.89e-1	SMART
ARM	180	221	3.32e-1	SMART
ARM	222	263	2.93e-2	SMART
Blast:ARM	265	306	1e-8	BLAST
low complexity region	313	338	N/A	INTRINSIC
ARM	353	399	4.88e0	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	670	690	N/A	INTRINSIC
Pfam:BTB	742	854	9.6e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078816
AA Change: S157P

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: S157P

Domain	Start	End	E-Value	Type
ZnF_C2H2	88	110	1.89e-1	SMART
ZnF_C2H2	116	138	7.49e-5	SMART
ZnF_C2H2	144	166	1.12e-3	SMART
ZnF_C2H2	172	194	2.4e-3	SMART
ZnF_C2H2	200	222	1.95e-3	SMART
ZnF_C2H2	228	250	3.89e-3	SMART
ZnF_C2H2	256	278	1.1e-2	SMART
ZnF_C2H2	284	306	1.33e-1	SMART
ZnF_C2H2	312	334	2.53e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	C	A	9: 4,309,424 (GRCm39)	A5S	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,042 (GRCm39)	L14P	probably benign	Het
Asb16	T	C	11: 102,168,058 (GRCm39)	Y373H	probably damaging	Het
Axin1	T	C	17: 26,362,375 (GRCm39)	S240P	probably benign	Het
C2cd5	T	C	6: 142,987,088 (GRCm39)	I505V	possibly damaging	Het
Camk2g	A	G	14: 20,810,244 (GRCm39)	L305P	probably damaging	Het
Ccm2	A	G	11: 6,535,211 (GRCm39)	K156E	probably damaging	Het
Cdh23	G	T	10: 60,212,613 (GRCm39)	Y1600*	probably null	Het
Cyp2c29	A	G	19: 39,261,810 (GRCm39)	Q16R	probably benign	Het
Ebf1	T	A	11: 44,774,666 (GRCm39)	V221E	probably damaging	Het
Fcgbpl1	A	G	7: 27,831,006 (GRCm39)	D73G	probably damaging	Het
Gtpbp1	A	G	15: 79,591,262 (GRCm39)	E125G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igfbp3	A	G	11: 7,163,568 (GRCm39)	C75R	probably damaging	Het
Itgb4	T	A	11: 115,875,898 (GRCm39)	C478*	probably null	Het
L3mbtl4	T	A	17: 68,986,419 (GRCm39)	C488S	probably benign	Het
Lysmd4	T	C	7: 66,873,493 (GRCm39)	S43P	probably damaging	Het
Mocs2	A	G	13: 114,962,815 (GRCm39)	K167E	probably damaging	Het
Mpl	C	A	4: 118,314,602 (GRCm39)	V23F		Het
Muc4	A	T	16: 32,570,280 (GRCm39)	I447F	possibly damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Ncf2	A	G	1: 152,711,864 (GRCm39)	*526W	probably null	Het
Oas1a	C	T	5: 121,043,943 (GRCm39)	G63D	probably damaging	Het
Or2q1	A	T	6: 42,794,780 (GRCm39)	Y125F	probably damaging	Het
Or5ac15	G	T	16: 58,939,712 (GRCm39)	C240*	probably null	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Piwil4	T	C	9: 14,631,383 (GRCm39)	N409S	probably benign	Het
Pkhd1l1	C	T	15: 44,433,382 (GRCm39)	Q3421*	probably null	Het
Plekha7	T	A	7: 115,753,875 (GRCm39)	D664V	probably damaging	Het
Pole	T	C	5: 110,437,233 (GRCm39)	M66T	possibly damaging	Het
Pon2	C	T	6: 5,265,480 (GRCm39)		probably null	Het
Pop4	G	A	7: 37,962,649 (GRCm39)	A205V	possibly damaging	Het
Ppp6r3	T	A	19: 3,521,030 (GRCm39)	E590D	probably damaging	Het
Ptpn6	T	A	6: 124,709,309 (GRCm39)	I96F	probably damaging	Het
Rfk	T	A	19: 17,372,590 (GRCm39)	N37K	probably benign	Het
Syne1	G	T	10: 5,049,527 (GRCm39)	Q7535K	probably damaging	Het
Tcf15	A	T	2: 151,986,023 (GRCm39)	I160F	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem160	T	C	7: 16,186,889 (GRCm39)	M1T	probably null	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Trnt1	T	C	6: 106,751,443 (GRCm39)	F140S	probably damaging	Het
Ttf1	T	C	2: 28,969,492 (GRCm39)		probably null	Het
Vmn1r172	A	T	7: 23,359,210 (GRCm39)	I32F	probably benign	Het
Vwc2l	T	A	1: 70,768,063 (GRCm39)	N42K	possibly damaging	Het

Other mutations in 9130023H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:9130023H24Rik	APN	7	127,836,291 (GRCm39)	missense	probably benign	0.01
IGL01865:9130023H24Rik	APN	7	127,836,107 (GRCm39)	missense	probably damaging	1.00
R0319:9130023H24Rik	UTSW	7	127,836,362 (GRCm39)	missense	probably benign
R1376:9130023H24Rik	UTSW	7	127,836,182 (GRCm39)	missense	probably benign	0.17
R1376:9130023H24Rik	UTSW	7	127,836,182 (GRCm39)	missense	probably benign	0.17
R2373:9130023H24Rik	UTSW	7	127,836,487 (GRCm39)	missense	probably benign	0.13
R4751:9130023H24Rik	UTSW	7	127,836,258 (GRCm39)	missense	probably benign	0.00
R5543:9130023H24Rik	UTSW	7	127,836,353 (GRCm39)	missense	probably benign
R5577:9130023H24Rik	UTSW	7	127,835,826 (GRCm39)	missense	probably damaging	1.00
R5726:9130023H24Rik	UTSW	7	127,835,832 (GRCm39)	missense	probably damaging	1.00
R5906:9130023H24Rik	UTSW	7	127,835,664 (GRCm39)	missense	probably benign	0.01
R6800:9130023H24Rik	UTSW	7	127,836,742 (GRCm39)	start gained	probably benign
R7040:9130023H24Rik	UTSW	7	127,835,897 (GRCm39)	missense	possibly damaging	0.64
R7529:9130023H24Rik	UTSW	7	127,836,336 (GRCm39)	nonsense	probably null
R7672:9130023H24Rik	UTSW	7	127,836,191 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGATCAGGTTGGAGCTAACC -3'
(R):5'- TCCCCAAAGCTTTCAAGTGTAG -3'

Sequencing Primer
(F):5'- GGAGCTAACCCTGAAAGTCTTTC -3'
(R):5'- CCCAAAGCTTTCAAGTGTAGGGATTG -3'

Posted On

2021-07-15