Mutagenetix > Incidental Mutations

Incidental Mutation 'R3789:9230104L09Rik'

272422

Institutional Source

Beutler Lab

Gene Symbol

9230104L09Rik

Ensembl Gene

ENSMUSG00000027446

Gene Name

RIKEN cDNA 9230104L09 gene

Synonyms

mCST E2

MMRRC Submission

041604-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148846711-148865038 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 148847958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 92 (E92*)

Ref Sequence

ENSEMBL: ENSMUSP00000028937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028937]

AlphaFold

Q9D264

Predicted Effect

probably null
Transcript: ENSMUST00000028937
AA Change: E92*

SMART Domains

Protein: ENSMUSP00000028937
Gene: ENSMUSG00000027446
AA Change: E92*

Domain	Start	End	E-Value	Type
Pfam:Cystatin	35	118	3.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149457

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,510,668	I4226N	probably damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Acvrl1	C	T	15: 101,137,469	T292M	probably damaging	Het
Adamts8	T	C	9: 30,959,292	S688P	probably damaging	Het
Adprhl2	A	T	4: 126,316,751	I312N	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Clca4a	C	A	3: 144,974,956	G20V	probably damaging	Het
Col12a1	C	A	9: 79,639,723	V2276L	possibly damaging	Het
Drosha	T	A	15: 12,912,537	Y1080*	probably null	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ebf2	T	A	14: 67,239,493		probably null	Het
Emc8	T	C	8: 120,658,130	T195A	probably benign	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Frs3	G	A	17: 47,699,696		probably null	Het
Fsip2	T	C	2: 82,982,714	S640P	probably damaging	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hivep3	T	C	4: 120,098,416	S1310P	probably damaging	Het
Hltf	C	T	3: 20,069,047	P200S	probably damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Lrp1	T	C	10: 127,571,969	D1817G	possibly damaging	Het
Lrpprc	T	C	17: 84,771,528	I253V	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
Mcm9	G	A	10: 53,616,017	R403W	probably damaging	Het
Mms22l	A	G	4: 24,517,115	D222G	possibly damaging	Het
Mug1	G	A	6: 121,884,628	V1350I	probably benign	Het
Olfr663	T	A	7: 104,703,949	D127E	probably damaging	Het
Pclo	A	G	5: 14,680,450		probably benign	Het
Plekha7	A	C	7: 116,175,734	I175R	probably damaging	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Pou2f1	G	C	1: 165,894,969	P349R	probably damaging	Het
Prmt8	A	T	6: 127,711,147	I236N	probably damaging	Het
Rexo2	A	G	9: 48,473,062	I139T	probably damaging	Het
Rsbn1l	A	C	5: 20,896,108	S811R	probably benign	Het
Sec24b	T	C	3: 130,020,627	D345G	probably benign	Het
Serpina1b	A	G	12: 103,729,272	S337P	probably damaging	Het
Snx33	T	C	9: 56,918,560	E539G	probably benign	Het
Sorcs3	A	G	19: 48,398,711	T212A	possibly damaging	Het
Spa17	T	G	9: 37,611,845	K49Q	possibly damaging	Het
St3gal6	C	T	16: 58,484,773	E109K	probably benign	Het
Stat4	A	G	1: 52,011,796	N5D	probably benign	Het
Tmem232	C	T	17: 65,382,525	D532N	probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tmem81	A	G	1: 132,508,071	N205S	probably benign	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r23	A	T	6: 123,741,389	N567I	probably damaging	Het

Other mutations in 9230104L09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02414:9230104L09Rik	APN	2	148850678	missense	possibly damaging	0.70
R2973:9230104L09Rik	UTSW	2	148850786	missense	probably benign	0.20
R2974:9230104L09Rik	UTSW	2	148850786	missense	probably benign	0.20
R3802:9230104L09Rik	UTSW	2	148850696	missense	probably benign	0.02
R4796:9230104L09Rik	UTSW	2	148850738	missense	probably damaging	0.99
R6330:9230104L09Rik	UTSW	2	148850825	missense	probably damaging	0.99
R6623:9230104L09Rik	UTSW	2	148850762	missense	probably benign	0.05
R7440:9230104L09Rik	UTSW	2	148846991	missense	probably damaging	1.00
R7809:9230104L09Rik	UTSW	2	148846990	missense	probably damaging	0.99
R9169:9230104L09Rik	UTSW	2	148850669	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCCTCTGTAGCTTGCATC -3'
(R):5'- TTAAGAAGGGAATGCTAGACCTTG -3'

Sequencing Primer
(F):5'- GCCCTTAAGACTTAAGAAGGAATTCG -3'
(R):5'- GGAATGCTAGACCTTGGAAAAACTCC -3'

Posted On

2015-03-25