Mutagenetix > Incidental Mutation

Incidental Mutation 'R7092:1300017J02Rik'

550300

Institutional Source

Beutler Lab

Gene Symbol

1300017J02Rik

Ensembl Gene

ENSMUSG00000033688

Gene Name

RIKEN cDNA 1300017J02 gene

Synonyms

mICA

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R7092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103250521-103305082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103281043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 106 (S106L)

Ref Sequence

ENSEMBL: ENSMUSP00000035163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530] [ENSMUST00000142540]

AlphaFold

Q9DBD0

PDB Structure

Crystal Structure of the Murine Inhibitor of Carbonic Anhydrase [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035163
AA Change: S106L

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: S106L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	352	5.48e-163	SMART
TR_FER	355	697	3.26e-179	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123530
AA Change: S106L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: S106L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	351	3.67e-164	SMART
TR_FER	352	619	5.89e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142540

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034I23Rik	T	A	3: 40,902,374	D22V	possibly damaging	Het
4922502D21Rik	T	A	6: 129,323,000	T172S	probably benign	Het
4930579F01Rik	C	T	3: 138,183,745	C37Y	probably benign	Het
8430408G22Rik	C	A	6: 116,651,788	P31T	probably damaging	Het
A430005L14Rik	T	A	4: 153,960,994		probably null	Het
Abca4	C	G	3: 122,138,569	P1499A	probably damaging	Het
Adcy8	T	C	15: 64,871,770	N330D	possibly damaging	Het
Arfgef1	A	G	1: 10,153,676	Y1466H	probably damaging	Het
Asz1	A	C	6: 18,071,819		probably null	Het
Atad5	T	A	11: 80,120,720	N1307K	possibly damaging	Het
B4galnt4	C	A	7: 141,068,636	F688L	probably damaging	Het
Birc6	C	T	17: 74,646,745	T3349I	probably damaging	Het
Ccp110	C	A	7: 118,735,271	A989E	probably benign	Het
Ccser2	A	G	14: 36,940,655	S191P	probably benign	Het
Cdca2	A	G	14: 67,707,351		probably null	Het
Cdcp1	T	A	9: 123,183,613	T290S	probably benign	Het
Cnnm1	T	C	19: 43,441,948	Y502H	probably damaging	Het
Cyba	T	G	8: 122,427,698	T29P	probably damaging	Het
Dcaf12	A	T	4: 41,301,366	I190N	probably damaging	Het
Epha1	T	C	6: 42,364,245	T512A	probably benign	Het
Fancg	G	A	4: 43,004,831	P454L	probably benign	Het
Fasn	A	C	11: 120,820,120	V268G	possibly damaging	Het
Fgfr1op	C	T	17: 8,172,970	P161S	probably benign	Het
Fip1l1	T	A	5: 74,536,843	L42Q	probably damaging	Het
Fjx1	A	G	2: 102,450,756	L278P	possibly damaging	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Gm1527	T	A	3: 28,914,547		probably null	Het
Gm8298	T	C	3: 59,861,079	F10S	probably benign	Het
Gng3	T	A	19: 8,838,247	M42L	probably benign	Het
Gsdmc2	T	A	15: 63,825,098	Q408L	probably damaging	Het
Gtpbp3	T	A	8: 71,492,265	I388K	probably benign	Het
Hmcn1	A	T	1: 150,604,246	W4534R	probably damaging	Het
Ist1	A	T	8: 109,682,596		probably null	Het
Kif1bp	C	A	10: 62,578,300	K26N	probably damaging	Het
Kyat3	T	C	3: 142,729,795	I276T	probably damaging	Het
Lipm	C	T	19: 34,121,358	P411S	possibly damaging	Het
Lipo3	T	C	19: 33,613,692		probably null	Het
Lrrc9	C	A	12: 72,463,464	Q446K	possibly damaging	Het
Mfsd4a	G	T	1: 132,067,663	T77N	probably benign	Het
Mmp1b	T	A	9: 7,386,981	D77V	probably damaging	Het
Mrgprb4	A	G	7: 48,198,236	S315P	probably benign	Het
Mroh2b	C	A	15: 4,934,678	N887K	possibly damaging	Het
Mto1	A	G	9: 78,470,673	K599R	probably benign	Het
Muc5ac	T	C	7: 141,809,648		probably benign	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Mylk2	A	G	2: 152,915,190	N295S	probably benign	Het
Nr1i3	G	A	1: 171,214,178		probably null	Het
Nup107	T	C	10: 117,790,494	K25E	probably damaging	Het
Odc1	G	A	12: 17,548,313	V152I	possibly damaging	Het
Olfr1022	A	T	2: 85,868,607	N5I	probably damaging	Het
Olfr364-ps1	T	A	2: 37,146,611	M133K	probably damaging	Het
Olfr53	G	A	7: 140,652,237	G86D	probably benign	Het
Olfr828	G	A	9: 18,816,057	P79L	probably damaging	Het
Pde1b	G	T	15: 103,527,031	V438L	probably benign	Het
Pde4b	G	A	4: 102,601,851	V523M	probably damaging	Het
Pdgfc	C	T	3: 81,204,352	P205S	probably damaging	Het
Per2	A	G	1: 91,421,431	S1073P	probably damaging	Het
Plekhg5	C	T	4: 152,114,508	T1051I	probably damaging	Het
Ppme1	A	T	7: 100,371,822	M1K	probably null	Het
Prokr2	A	T	2: 132,381,316	V102D	possibly damaging	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptprh	C	A	7: 4,580,861		probably null	Het
Rbsn	T	C	6: 92,189,626	N679S	probably damaging	Het
Rce1	T	C	19: 4,623,090	T303A	probably damaging	Het
Rnf123	C	A	9: 108,068,600	R329L	probably benign	Het
Robo2	T	A	16: 73,956,643	N782I	probably damaging	Het
Ror2	A	C	13: 53,110,236	V940G	probably benign	Het
Rpe65	C	T	3: 159,615,591	R347C	probably damaging	Het
Rrp8	A	T	7: 105,734,109	F317I	probably damaging	Het
Sidt1	A	G	16: 44,299,829	V163A	possibly damaging	Het
Sin3b	T	C	8: 72,747,870		probably null	Het
Slamf1	A	G	1: 171,777,189	T176A	probably benign	Het
Slc12a4	G	T	8: 105,945,223	A922D	probably damaging	Het
Slco1a5	T	A	6: 142,248,675	Q414L	probably benign	Het
Snx11	C	A	11: 96,772,839	R58L	probably damaging	Het
Sp9	A	G	2: 73,273,771	D223G	probably damaging	Het
Sptbn1	T	C	11: 30,137,119	I1107V	possibly damaging	Het
Stap2	T	C	17: 56,002,954	R66G	probably benign	Het
Synrg	T	G	11: 84,008,857	F552V	possibly damaging	Het
Trim60	C	T	8: 65,001,048	R183H	probably benign	Het
Ttn	T	C	2: 76,903,416	D4505G	unknown	Het
Ubxn4	A	G	1: 128,252,222	I34M	probably benign	Het
Vac14	T	A	8: 110,715,496	M702K	probably damaging	Het
Vmn1r43	T	C	6: 89,869,903	I200M	probably benign	Het
Vmn2r108	T	A	17: 20,481,076	Y54F	probably benign	Het
Vps13b	T	C	15: 35,640,634	Y1382H	probably damaging	Het
Wdr72	T	C	9: 74,210,472	I834T	probably damaging	Het
Zfp970	T	A	2: 177,475,292	C220S	probably damaging	Het
Zkscan5	T	G	5: 145,220,089	I467S	probably benign	Het

Other mutations in 1300017J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:1300017J02Rik	APN	9	103254776	missense	possibly damaging	0.48
IGL02370:1300017J02Rik	APN	9	103263074	missense	probably benign	0.27
IGL02899:1300017J02Rik	APN	9	103277574	missense	probably damaging	1.00
R0206:1300017J02Rik	UTSW	9	103282662	missense	probably damaging	1.00
R0206:1300017J02Rik	UTSW	9	103282662	missense	probably damaging	1.00
R0831:1300017J02Rik	UTSW	9	103269779	missense	possibly damaging	0.50
R0849:1300017J02Rik	UTSW	9	103263057	missense	possibly damaging	0.94
R1225:1300017J02Rik	UTSW	9	103254839	splice site	probably benign
R2061:1300017J02Rik	UTSW	9	103268314	missense	probably benign	0.01
R2176:1300017J02Rik	UTSW	9	103259367	splice site	probably benign
R4915:1300017J02Rik	UTSW	9	103251855	nonsense	probably null
R4917:1300017J02Rik	UTSW	9	103251855	nonsense	probably null
R5020:1300017J02Rik	UTSW	9	103282502	missense	probably benign	0.02
R5033:1300017J02Rik	UTSW	9	103279414	missense	probably benign	0.36
R5087:1300017J02Rik	UTSW	9	103266221	missense	probably damaging	0.98
R5174:1300017J02Rik	UTSW	9	103282556	splice site	probably null
R6283:1300017J02Rik	UTSW	9	103282635	nonsense	probably null
R7175:1300017J02Rik	UTSW	9	103251789	critical splice donor site	probably null
R7347:1300017J02Rik	UTSW	9	103282646	missense	possibly damaging	0.67
R7380:1300017J02Rik	UTSW	9	103279481	nonsense	probably null
R7400:1300017J02Rik	UTSW	9	103250662	missense	probably benign	0.25
R7460:1300017J02Rik	UTSW	9	103254648	missense	probably benign	0.00
R7993:1300017J02Rik	UTSW	9	103263133	missense	probably benign
R8056:1300017J02Rik	UTSW	9	103266224	missense	probably damaging	1.00
R8686:1300017J02Rik	UTSW	9	103259428	missense	probably benign	0.00
R8869:1300017J02Rik	UTSW	9	103272632	missense	probably damaging	1.00
R9371:1300017J02Rik	UTSW	9	103281053	missense	probably benign	0.01
R9448:1300017J02Rik	UTSW	9	103272582	missense	probably benign
R9719:1300017J02Rik	UTSW	9	103254815	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ACTTGGTACCCGTAACGTTG -3'
(R):5'- AGTCCCGGGAAAGACACTAG -3'

Sequencing Primer
(F):5'- AATGTGGGTAGCACCATTCC -3'
(R):5'- ACTAGCAGAGTCTTCGCCAG -3'

Posted On

2019-05-15