Mutagenetix > Incidental Mutation

Incidental Mutation 'R5413:9930111J21Rik2'

427601

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik2

Ensembl Gene

ENSMUSG00000069892

Gene Name

RIKEN cDNA 9930111J21 gene 2

Synonyms

MMRRC Submission

042982-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R5413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48928487-48942069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48911204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 410 (T410S)

Ref Sequence

ENSEMBL: ENSMUSP00000098853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000101295] [ENSMUST00000179282]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101295
AA Change: T410S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: T410S

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2e-125	PFAM
Pfam:DLIC	52	107	3.2e-5	PFAM
Pfam:MMR_HSR1	72	235	2e-11	PFAM
low complexity region	430	444	N/A	INTRINSIC
Pfam:IIGP	447	820	2.3e-151	PFAM
Pfam:MMR_HSR1	483	607	5.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	A	G	5: 89,856,626 (GRCm39)	S316P	probably damaging	Het
Angptl3	A	T	4: 98,919,259 (GRCm39)	L6F	probably benign	Het
Clint1	T	C	11: 45,777,307 (GRCm39)	V98A	probably damaging	Het
Clk2	A	G	3: 89,080,785 (GRCm39)	N258S	probably benign	Het
Col18a1	T	C	10: 76,905,310 (GRCm39)	D723G	probably damaging	Het
Csmd3	A	T	15: 47,701,831 (GRCm39)	W1751R	probably damaging	Het
Daam1	C	A	12: 71,993,066 (GRCm39)	L352M	unknown	Het
Dennd2a	A	T	6: 39,441,227 (GRCm39)	F964I	probably damaging	Het
Dock5	A	G	14: 68,002,104 (GRCm39)	L1622P	probably damaging	Het
Dpy19l4	A	G	4: 11,289,700 (GRCm39)	L195P	probably damaging	Het
Esp24	A	C	17: 39,350,893 (GRCm39)	E31A	possibly damaging	Het
Fars2	T	A	13: 36,388,545 (GRCm39)	Y11*	probably null	Het
Fbxl16	C	A	17: 26,035,817 (GRCm39)	T138K	possibly damaging	Het
Frmpd1	A	G	4: 45,249,196 (GRCm39)	I129V	probably benign	Het
Gria1	A	G	11: 57,108,620 (GRCm39)	N241S	probably benign	Het
Homer1	A	G	13: 93,528,287 (GRCm39)	E274G	probably benign	Het
Igdcc3	T	C	9: 65,084,797 (GRCm39)	V189A	possibly damaging	Het
Igkv12-98	A	G	6: 68,548,078 (GRCm39)	Y68C	possibly damaging	Het
Igkv3-3	G	C	6: 70,664,414 (GRCm39)	R85S	probably damaging	Het
Ldha	A	G	7: 46,500,320 (GRCm39)	T144A	possibly damaging	Het
Lrp1	A	G	10: 127,423,936 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Or14c44	A	G	7: 86,061,675 (GRCm39)	Y35C	probably benign	Het
Or2n1d	G	T	17: 38,646,515 (GRCm39)	A156S	probably benign	Het
Or2y1b	A	T	11: 49,209,240 (GRCm39)	Y289F	probably damaging	Het
Or6b13	A	T	7: 139,782,635 (GRCm39)	V16E	possibly damaging	Het
Osbp	T	C	19: 11,961,855 (GRCm39)	Y551H	probably damaging	Het
Paf1	T	C	7: 28,096,040 (GRCm39)	M249T	possibly damaging	Het
Pcsk2	T	C	2: 143,538,620 (GRCm39)		probably null	Het
Piwil1	G	A	5: 128,820,944 (GRCm39)	V290I	possibly damaging	Het
Prmt9	A	T	8: 78,298,638 (GRCm39)	D444V	possibly damaging	Het
Rapgef2	T	C	3: 78,995,173 (GRCm39)	D677G	probably damaging	Het
Tmem59	A	G	4: 107,057,659 (GRCm39)	E237G	probably benign	Het
Trpm5	A	T	7: 142,634,705 (GRCm39)	I664N	probably damaging	Het
Unc13b	G	A	4: 43,257,936 (GRCm39)		probably null	Het
Usp17lc	C	A	7: 103,067,763 (GRCm39)	Q353K	probably benign	Het
Uvssa	G	A	5: 33,568,252 (GRCm39)	V547M	probably damaging	Het
Vdac1	G	T	11: 52,265,794 (GRCm39)	L52F	probably null	Het
Vmn2r14	T	A	5: 109,369,154 (GRCm39)	I140L	probably benign	Het
Wnt3a	A	G	11: 59,166,182 (GRCm39)	S33P	probably benign	Het
Wwp2	T	A	8: 108,281,710 (GRCm39)	Y300N	probably damaging	Het
Zwilch	T	A	9: 64,075,892 (GRCm39)		probably null	Het

Other mutations in 9930111J21Rik2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1986:9930111J21Rik2	UTSW	11	48,910,119 (GRCm39)	missense	possibly damaging	0.83
R2023:9930111J21Rik2	UTSW	11	48,911,144 (GRCm39)	missense	probably benign	0.01
R2202:9930111J21Rik2	UTSW	11	48,910,149 (GRCm39)	missense	probably damaging	1.00
R2205:9930111J21Rik2	UTSW	11	48,910,149 (GRCm39)	missense	probably damaging	1.00
R2337:9930111J21Rik2	UTSW	11	48,911,131 (GRCm39)	missense	probably benign	0.01
R3709:9930111J21Rik2	UTSW	11	48,910,480 (GRCm39)	missense	probably damaging	1.00
R3716:9930111J21Rik2	UTSW	11	48,910,363 (GRCm39)	missense	probably damaging	0.96
R3738:9930111J21Rik2	UTSW	11	48,910,108 (GRCm39)	nonsense	probably null
R3739:9930111J21Rik2	UTSW	11	48,910,108 (GRCm39)	nonsense	probably null
R4034:9930111J21Rik2	UTSW	11	48,910,108 (GRCm39)	nonsense	probably null
R5595:9930111J21Rik2	UTSW	11	48,910,538 (GRCm39)	missense	possibly damaging	0.95
R5611:9930111J21Rik2	UTSW	11	48,910,828 (GRCm39)	missense	possibly damaging	0.91
R5651:9930111J21Rik2	UTSW	11	48,910,700 (GRCm39)	missense	probably damaging	0.99
R5715:9930111J21Rik2	UTSW	11	48,910,777 (GRCm39)	missense	probably damaging	1.00
R6169:9930111J21Rik2	UTSW	11	48,910,088 (GRCm39)	splice site	probably null
R6218:9930111J21Rik2	UTSW	11	48,910,134 (GRCm39)	missense	probably benign	0.06
R6536:9930111J21Rik2	UTSW	11	48,910,550 (GRCm39)	missense	probably benign	0.03
R7186:9930111J21Rik2	UTSW	11	48,910,100 (GRCm39)	missense	possibly damaging	0.96
R7891:9930111J21Rik2	UTSW	11	48,910,543 (GRCm39)	missense	probably benign	0.11
R8056:9930111J21Rik2	UTSW	11	48,910,909 (GRCm39)	missense	probably benign	0.40
R8419:9930111J21Rik2	UTSW	11	48,910,312 (GRCm39)	missense	probably damaging	1.00
R8726:9930111J21Rik2	UTSW	11	48,910,507 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCAATGTTCAGTGGGGC -3'
(R):5'- CTGAATGAGGGCATGCGGC -3'

Sequencing Primer
(F):5'- GCTCAGAGCATGACTAATTTCAGAC -3'
(R):5'- CGGCATGCAGAGCAGAAATG -3'

Posted On

2016-09-01