Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:9930012K11Rik'

617607

Institutional Source

Beutler Lab

Gene Symbol

9930012K11Rik

Ensembl Gene

ENSMUSG00000044551

Gene Name

RIKEN cDNA 9930012K11 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70154405-70159502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70156667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 220 (P220T)

Ref Sequence

ENSEMBL: ENSMUSP00000061834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035612] [ENSMUST00000058240] [ENSMUST00000129767] [ENSMUST00000153871]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035612

SMART Domains

Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:S1-like	55	112	1.3e-29	PFAM
DBC1	339	462	8.48e-73	SMART
low complexity region	496	507	N/A	INTRINSIC
low complexity region	534	545	N/A	INTRINSIC
low complexity region	563	601	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC
low complexity region	647	660	N/A	INTRINSIC
SCOP:d2mysb_	703	747	2e-3	SMART
Blast:HDc	704	758	7e-7	BLAST
coiled coil region	828	898	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058240
AA Change: P220T

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

SMART Domains

Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551
AA Change: P220T

Domain	Start	End	E-Value	Type
Pfam:DUF4657	78	366	1e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129767

Predicted Effect

probably damaging
Transcript: ENSMUST00000153871
AA Change: P220T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551
AA Change: P220T

Domain	Start	End	E-Value	Type
Pfam:DUF4657	78	365	1.4e-132	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,612,594	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,982,595	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,986,217	S26A	possibly damaging	Het
4931409K22Rik	A	G	5: 24,550,636	M296T	possibly damaging	Het
A430105I19Rik	A	G	2: 118,760,524		probably null	Het
Adam1b	A	C	5: 121,500,923	S686R	probably benign	Het
Adam8	T	C	7: 139,987,576	D418G	probably damaging	Het
Adcy8	A	G	15: 64,920,246	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,563,855	M373K	probably benign	Het
Alpk2	T	C	18: 65,305,035	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,884,994	V531A	probably benign	Het
Ano3	C	T	2: 110,667,783	E738K	probably damaging	Het
Ano4	T	A	10: 88,971,332	I796F	probably damaging	Het
Apeh	T	C	9: 108,092,591	E190G	probably benign	Het
Cadm3	A	G	1: 173,338,055	L346P	probably damaging	Het
Clec2e	G	A	6: 129,094,425	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,406,835	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,916,885	F91L	probably damaging	Het
Diaph3	T	A	14: 86,656,399	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,291,855	T738A	unknown	Het
Exoc4	T	A	6: 33,347,931	W387R	probably damaging	Het
Fam173b	T	C	15: 31,608,171	Y123H	probably damaging	Het
Focad	T	C	4: 88,397,000	V1379A	unknown	Het
Frmd4a	T	C	2: 4,603,702	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,407,051	T150A	probably benign	Het
Gm43517	A	T	12: 49,389,626		probably benign	Het
Gm5773	C	T	3: 93,773,168	A49V	probably benign	Het
Helz	T	A	11: 107,686,421	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,734,278	H118R	probably benign	Het
Inf2	C	T	12: 112,608,902	P856S	unknown	Het
Ints5	T	A	19: 8,896,140	L488I	probably damaging	Het
Kifc1	G	A	17: 33,883,203	R479C	probably damaging	Het
Lrba	T	A	3: 86,295,401	C289*	probably null	Het
Mael	A	G	1: 166,226,627	L196S	probably damaging	Het
Med23	T	A	10: 24,879,683	S229R	possibly damaging	Het
Mroh9	T	C	1: 163,039,233	N645D	probably benign	Het
Myom3	G	A	4: 135,801,748	V1132I	probably benign	Het
Naalad2	T	G	9: 18,397,473		probably benign	Het
Ndufa13	A	T	8: 69,894,537	L71H	probably damaging	Het
Nepro	A	T	16: 44,731,415	H212L	probably benign	Het
Nmd3	T	A	3: 69,729,965		probably benign	Het
Nox4	T	A	7: 87,304,910	L141Q	probably damaging	Het
Olfr1254	T	C	2: 89,789,046	E102G	probably benign	Het
Olfr283	T	A	15: 98,378,997	M38L	probably benign	Het
Olfr473	T	C	7: 107,934,438	V306A	probably benign	Het
Olfr482	T	A	7: 108,095,289	T94S	probably benign	Het
Olfr811	T	G	10: 129,801,943	E194A	probably damaging	Het
Pfpl	A	G	19: 12,430,206	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,076,182	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,318,695		probably benign	Het
Ptprz1	A	T	6: 23,042,751	E2058V	probably damaging	Het
Rag1	A	T	2: 101,642,507	N763K	probably damaging	Het
Rhbg	A	C	3: 88,248,453	D63E	probably damaging	Het
Rrm1	T	A	7: 102,457,265	F330L	probably benign	Het
Scaf8	A	T	17: 3,159,293	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,898,882	V80I	probably benign	Het
Slc18a1	A	G	8: 69,075,147	V4A	probably benign	Het
Slco3a1	T	A	7: 74,554,470	I41F	probably benign	Het
Slirp	T	C	12: 87,447,600	V45A	probably damaging	Het
Spata31	A	T	13: 64,922,804	Q922L	probably benign	Het
Spg11	A	G	2: 122,097,321	S661P	possibly damaging	Het
Stab2	G	T	10: 86,846,052	T2495K	probably benign	Het
Supt16	A	G	14: 52,170,875	I871T	probably damaging	Het
Sval2	A	G	6: 41,860,364	Q9R	probably damaging	Het
Syngap1	A	T	17: 26,941,452	M1L	probably benign	Het
Tfpi	A	T	2: 84,453,922	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,287,765	Y200*	probably null	Het
Tmc1	A	T	19: 20,900,817	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,190,126	E827G	probably benign	Het
Tollip	T	C	7: 141,892,826	I33V	probably benign	Het
Unc80	T	A	1: 66,606,644	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,559,824	R85W	probably benign	Het
Vwa5a	C	A	9: 38,736,020	S565*	probably null	Het
Xbp1	T	A	11: 5,521,910	V12D	probably benign	Het

Other mutations in 9930012K11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:9930012K11Rik	APN	14	70157607	missense	probably benign	0.21
IGL03226:9930012K11Rik	APN	14	70157609	missense	probably damaging	0.97
R0125:9930012K11Rik	UTSW	14	70156647	splice site	probably benign
R0544:9930012K11Rik	UTSW	14	70157314	missense	probably benign	0.00
R1630:9930012K11Rik	UTSW	14	70157180	missense	probably benign	0.17
R4546:9930012K11Rik	UTSW	14	70156478	missense	probably benign	0.22
R4822:9930012K11Rik	UTSW	14	70156458	missense	probably benign	0.12
R4846:9930012K11Rik	UTSW	14	70155943	missense	probably damaging	1.00
R5211:9930012K11Rik	UTSW	14	70156784	missense	probably benign	0.00
R6860:9930012K11Rik	UTSW	14	70157622	missense	possibly damaging	0.74
R7286:9930012K11Rik	UTSW	14	70157237	missense	possibly damaging	0.77
R7319:9930012K11Rik	UTSW	14	70156186	missense	probably benign
R7948:9930012K11Rik	UTSW	14	70157366	frame shift	probably null
R8099:9930012K11Rik	UTSW	14	70157520	missense	probably benign	0.01
R9013:9930012K11Rik	UTSW	14	70156727	missense	probably damaging	0.99
R9159:9930012K11Rik	UTSW	14	70156789	missense	probably benign	0.03
R9308:9930012K11Rik	UTSW	14	70156414	critical splice donor site	probably null
R9794:9930012K11Rik	UTSW	14	70157589	missense	possibly damaging	0.88
X0064:9930012K11Rik	UTSW	14	70156772	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCTGGAGCCAATACTTCC -3'
(R):5'- CCATTTTGTTGGCTCAGTGCAG -3'

Sequencing Primer
(F):5'- GGAGCCAATACTTCCTCCTCAGG -3'
(R):5'- TCAGTGCAGCCTGACTACC -3'

Posted On

2020-01-23