Mutagenetix > Incidental Mutation

Incidental Mutation 'R5211:9930012K11Rik'

403147

Institutional Source

Beutler Lab

Gene Symbol

9930012K11Rik

Ensembl Gene

ENSMUSG00000044551

Gene Name

RIKEN cDNA 9930012K11 gene

Synonyms

MMRRC Submission

042785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70391854-70396951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70394233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 181 (S181P)

Ref Sequence

ENSEMBL: ENSMUSP00000122309 (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 benign
Transcript: ENSMUST00000058240
AA Change: S181P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551
AA Change: S181P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140314

Predicted Effect

probably benign
Transcript: ENSMUST00000153871
AA Change: S181P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551
AA Change: S181P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	T	17: 43,733,511 (GRCm39)	T112S	probably benign	Het
Ascc2	T	C	11: 4,623,399 (GRCm39)	V545A	possibly damaging	Het
Bmp2	A	T	2: 133,396,550 (GRCm39)	S69C	probably damaging	Het
Btaf1	T	A	19: 36,973,962 (GRCm39)	I1378K	probably benign	Het
Ces2b	C	T	8: 105,561,695 (GRCm39)	T263I	possibly damaging	Het
Cntn5	A	T	9: 9,704,894 (GRCm39)	V635D	possibly damaging	Het
Dock6	T	C	9: 21,731,648 (GRCm39)	E1218G	probably benign	Het
Eml6	T	C	11: 29,804,145 (GRCm39)	I319V	probably benign	Het
Esd	T	C	14: 74,978,632 (GRCm39)	S65P	probably damaging	Het
Exoc1l	C	A	5: 76,664,250 (GRCm39)	T113K	possibly damaging	Het
Fstl3	A	T	10: 79,616,012 (GRCm39)	Q166L	probably benign	Het
Garin1a	A	T	6: 29,286,098 (GRCm39)	K128*	probably null	Het
Gcn1	T	A	5: 115,757,371 (GRCm39)	S2445T	probably benign	Het
Gfy	C	A	7: 44,827,282 (GRCm39)	L271F	possibly damaging	Het
Gjc2	A	G	11: 59,068,284 (GRCm39)	V66A	possibly damaging	Het
H3c4	G	T	13: 23,760,015 (GRCm39)	G14C	possibly damaging	Het
Itm2c	T	A	1: 85,834,249 (GRCm39)	V188E	probably damaging	Het
Jmjd1c	C	G	10: 67,067,795 (GRCm39)	S1766C	probably damaging	Het
Kcnn3	A	G	3: 89,428,538 (GRCm39)	T255A	probably benign	Het
Kdm4d	A	C	9: 14,374,400 (GRCm39)	V486G	probably benign	Het
Krt18	T	G	15: 101,939,888 (GRCm39)	I362S	probably damaging	Het
Lrrc8d	G	A	5: 105,961,606 (GRCm39)	R672Q	probably damaging	Het
Ly6f	G	A	15: 75,143,652 (GRCm39)	V120M	probably damaging	Het
Map3k4	A	G	17: 12,451,321 (GRCm39)	V1524A	possibly damaging	Het
Mrgprh	T	C	17: 13,095,889 (GRCm39)	V43A	probably benign	Het
Mx2	A	T	16: 97,348,633 (GRCm39)	M269L	probably damaging	Het
Myrfl	C	T	10: 116,634,535 (GRCm39)	V620I	probably benign	Het
Nlrp9b	G	A	7: 19,783,381 (GRCm39)	C908Y	probably damaging	Het
Nyap2	T	A	1: 81,064,991 (GRCm39)	M1K	probably null	Het
Olfml3	A	T	3: 103,644,515 (GRCm39)	H51Q	probably benign	Het
Or11h6	C	T	14: 50,880,710 (GRCm39)	T324I	possibly damaging	Het
Pcdhb1	G	A	18: 37,399,704 (GRCm39)	V552I	probably benign	Het
Pm20d1	T	A	1: 131,734,647 (GRCm39)	I353N	possibly damaging	Het
Sbk2	A	G	7: 4,965,966 (GRCm39)	F73L	possibly damaging	Het
Scn10a	A	C	9: 119,490,298 (GRCm39)	L548R	possibly damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slmap	T	C	14: 26,204,117 (GRCm39)	Y68C	probably damaging	Het
Syde2	T	C	3: 145,707,093 (GRCm39)	V611A	probably benign	Het
Sympk	A	G	7: 18,769,814 (GRCm39)	M164V	probably benign	Het
Syt17	T	C	7: 118,041,626 (GRCm39)	S43G	probably benign	Het
Ubr1	T	C	2: 120,723,651 (GRCm39)	T1303A	possibly damaging	Het
Vmn2r100	A	G	17: 19,746,257 (GRCm39)	Y535C	possibly damaging	Het

Other mutations in 9930012K11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:9930012K11Rik	APN	14	70,395,056 (GRCm39)	missense	probably benign	0.21
IGL03226:9930012K11Rik	APN	14	70,395,058 (GRCm39)	missense	probably damaging	0.97
R0125:9930012K11Rik	UTSW	14	70,394,096 (GRCm39)	splice site	probably benign
R0544:9930012K11Rik	UTSW	14	70,394,763 (GRCm39)	missense	probably benign	0.00
R1630:9930012K11Rik	UTSW	14	70,394,629 (GRCm39)	missense	probably benign	0.17
R4546:9930012K11Rik	UTSW	14	70,393,927 (GRCm39)	missense	probably benign	0.22
R4822:9930012K11Rik	UTSW	14	70,393,907 (GRCm39)	missense	probably benign	0.12
R4846:9930012K11Rik	UTSW	14	70,393,392 (GRCm39)	missense	probably damaging	1.00
R6860:9930012K11Rik	UTSW	14	70,395,071 (GRCm39)	missense	possibly damaging	0.74
R7286:9930012K11Rik	UTSW	14	70,394,686 (GRCm39)	missense	possibly damaging	0.77
R7319:9930012K11Rik	UTSW	14	70,393,635 (GRCm39)	missense	probably benign
R7948:9930012K11Rik	UTSW	14	70,394,815 (GRCm39)	frame shift	probably null
R8024:9930012K11Rik	UTSW	14	70,394,116 (GRCm39)	missense	probably damaging	1.00
R8099:9930012K11Rik	UTSW	14	70,394,969 (GRCm39)	missense	probably benign	0.01
R9013:9930012K11Rik	UTSW	14	70,394,176 (GRCm39)	missense	probably damaging	0.99
R9159:9930012K11Rik	UTSW	14	70,394,238 (GRCm39)	missense	probably benign	0.03
R9308:9930012K11Rik	UTSW	14	70,393,863 (GRCm39)	critical splice donor site	probably null
R9794:9930012K11Rik	UTSW	14	70,395,038 (GRCm39)	missense	possibly damaging	0.88
X0064:9930012K11Rik	UTSW	14	70,394,221 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTGTTCAGAAGGCATTCATG -3'
(R):5'- ACAGGTATGGGTGACATGCTC -3'

Sequencing Primer
(F):5'- ATTCATGCTCCAGGGGTCC -3'
(R):5'- TGACATGCTCAGCTGGC -3'

Posted On

2016-07-22