Mutagenetix > Incidental Mutations

Incidental Mutation 'R7950:Srrm2'

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649524

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R7950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23790662-23824741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23808110 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 96 (L96P)

Ref Sequence

ENSEMBL: ENSMUSP00000139842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088621] [ENSMUST00000186961] [ENSMUST00000190686] [ENSMUST00000191385]

Predicted Effect

probably benign
Transcript: ENSMUST00000088621

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218

Domain	Start	End	E-Value	Type
low complexity region	82	157	N/A	INTRINSIC
low complexity region	161	188	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC
internal_repeat_4	248	305	2.93e-5	PROSPERO
internal_repeat_5	259	388	2.93e-5	PROSPERO
low complexity region	407	423	N/A	INTRINSIC
CTD	464	584	5.25e-14	SMART
low complexity region	652	682	N/A	INTRINSIC
low complexity region	689	721	N/A	INTRINSIC
internal_repeat_6	732	778	4.88e-5	PROSPERO
low complexity region	779	795	N/A	INTRINSIC
low complexity region	802	824	N/A	INTRINSIC
low complexity region	839	853	N/A	INTRINSIC
internal_repeat_2	859	1124	6.34e-6	PROSPERO
internal_repeat_1	1055	1183	3.81e-6	PROSPERO
internal_repeat_4	1113	1166	2.93e-5	PROSPERO
internal_repeat_6	1169	1213	4.88e-5	PROSPERO
low complexity region	1236	1244	N/A	INTRINSIC
low complexity region	1275	1286	N/A	INTRINSIC
low complexity region	1290	1312	N/A	INTRINSIC
internal_repeat_2	1313	1485	6.34e-6	PROSPERO
low complexity region	1493	1525	N/A	INTRINSIC
low complexity region	1545	1555	N/A	INTRINSIC
low complexity region	1559	1720	N/A	INTRINSIC
low complexity region	1734	1919	N/A	INTRINSIC
low complexity region	1926	1951	N/A	INTRINSIC
low complexity region	1966	1980	N/A	INTRINSIC
low complexity region	2079	2105	N/A	INTRINSIC
internal_repeat_3	2107	2118	1.06e-5	PROSPERO
internal_repeat_3	2135	2146	1.06e-5	PROSPERO
low complexity region	2153	2172	N/A	INTRINSIC
internal_repeat_5	2182	2320	2.93e-5	PROSPERO
internal_repeat_1	2224	2368	3.81e-6	PROSPERO
low complexity region	2390	2425	N/A	INTRINSIC
low complexity region	2518	2539	N/A	INTRINSIC
low complexity region	2541	2550	N/A	INTRINSIC
low complexity region	2552	2571	N/A	INTRINSIC
low complexity region	2594	2607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186045

Predicted Effect

unknown
Transcript: ENSMUST00000186961
AA Change: L96P

SMART Domains

Protein: ENSMUSP00000140813
Gene: ENSMUSG00000039218
AA Change: L96P

Domain	Start	End	E-Value	Type
cwf21	58	103	5.6e-18	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000190686
AA Change: L96P

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: L96P

Domain	Start	End	E-Value	Type
Pfam:cwf21	58	102	1.5e-13	PFAM
low complexity region	178	253	N/A	INTRINSIC
low complexity region	257	284	N/A	INTRINSIC
low complexity region	319	334	N/A	INTRINSIC
internal_repeat_4	344	401	3.07e-5	PROSPERO
internal_repeat_5	355	484	3.07e-5	PROSPERO
low complexity region	503	519	N/A	INTRINSIC
CTD	560	680	5.25e-14	SMART
low complexity region	748	778	N/A	INTRINSIC
low complexity region	785	817	N/A	INTRINSIC
internal_repeat_6	828	874	5.11e-5	PROSPERO
low complexity region	875	891	N/A	INTRINSIC
low complexity region	898	920	N/A	INTRINSIC
low complexity region	935	949	N/A	INTRINSIC
internal_repeat_2	955	1220	6.62e-6	PROSPERO
internal_repeat_1	1151	1279	3.97e-6	PROSPERO
internal_repeat_4	1209	1262	3.07e-5	PROSPERO
internal_repeat_6	1265	1309	5.11e-5	PROSPERO
low complexity region	1332	1340	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC
low complexity region	1386	1408	N/A	INTRINSIC
internal_repeat_2	1409	1581	6.62e-6	PROSPERO
low complexity region	1589	1621	N/A	INTRINSIC
low complexity region	1641	1651	N/A	INTRINSIC
low complexity region	1655	1816	N/A	INTRINSIC
low complexity region	1830	2015	N/A	INTRINSIC
low complexity region	2022	2047	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC
low complexity region	2175	2201	N/A	INTRINSIC
internal_repeat_3	2203	2214	1.1e-5	PROSPERO
internal_repeat_3	2231	2242	1.1e-5	PROSPERO
low complexity region	2249	2268	N/A	INTRINSIC
internal_repeat_5	2278	2416	3.07e-5	PROSPERO
internal_repeat_1	2320	2464	3.97e-6	PROSPERO
low complexity region	2486	2521	N/A	INTRINSIC
low complexity region	2614	2635	N/A	INTRINSIC
low complexity region	2637	2646	N/A	INTRINSIC
low complexity region	2648	2667	N/A	INTRINSIC
low complexity region	2690	2703	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191385

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,979,767	T31I	probably damaging	Het
Adgrf5	G	A	17: 43,451,157	V1248M	probably damaging	Het
Alb	T	C	5: 90,472,464	S478P	probably damaging	Het
Arhgap17	A	G	7: 123,286,816	S698P	probably benign	Het
Arhgef5	A	G	6: 43,273,925	T537A	possibly damaging	Het
Arl6	A	T	16: 59,618,731		probably null	Het
Atp13a4	A	T	16: 29,449,917	W540R		Het
Birc6	A	T	17: 74,593,100	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
C130074G19Rik	T	C	1: 184,874,374		probably null	Het
C1ql4	T	A	15: 99,084,812	H220L	probably benign	Het
Cacna1s	A	G	1: 136,100,625	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,695,296		probably null	Het
Ccdc36	T	C	9: 108,405,671	T273A	probably benign	Het
Ccl1	T	A	11: 82,179,693	I18L	probably benign	Het
Ecel1	A	T	1: 87,148,269	Y729N	probably damaging	Het
Epha4	T	A	1: 77,507,196	I59F	probably damaging	Het
Filip1l	A	G	16: 57,569,711	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,382	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,783,723	P513A	probably damaging	Het
Gm5624	A	G	14: 44,560,733	Y139H		Het
Golgb1	A	C	16: 36,915,424	I1719L	probably benign	Het
Hsf1	T	C	15: 76,498,193	S255P	probably benign	Het
Ighv2-2	T	C	12: 113,588,294	D108G	probably damaging	Het
Kbtbd3	C	T	9: 4,316,878	Q10*	probably null	Het
Kcnh2	C	T	5: 24,333,036	V110M	probably benign	Het
Magi3	A	C	3: 104,016,689	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,128,068	D1933E	unknown	Het
Mki67	G	A	7: 135,699,724	R1194*	probably null	Het
Nap1l1	T	C	10: 111,492,908	Y233H	probably damaging	Het
Napsa	A	G	7: 44,585,334	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,663,599	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,445,615	I591N	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,067	I35T	possibly damaging	Het
Orc2	T	C	1: 58,467,668	D503G	possibly damaging	Het
Osbp	T	A	19: 11,978,248	S343T	probably benign	Het
Pcdha6	T	G	18: 36,969,426	D557E	probably damaging	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,113,437		probably benign	Het
Ppdpf	A	G	2: 181,187,857	Y35C	probably benign	Het
Scrn2	T	A	11: 97,030,929	L75Q	probably damaging	Het
Scube3	G	A	17: 28,171,226	V955I	probably benign	Het
Slc1a1	T	C	19: 28,911,761	V478A	probably benign	Het
Slc4a4	A	G	5: 89,058,278		probably null	Het
Strn	A	T	17: 78,670,423	L175Q		Het

Other mutations in Srrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Srrm2	APN	17	23812478	missense	probably benign	0.23
IGL00484:Srrm2	APN	17	23818518	missense	probably benign	0.23
IGL01413:Srrm2	APN	17	23816025	unclassified	probably benign
IGL02272:Srrm2	APN	17	23815782	unclassified	probably benign
IGL02279:Srrm2	APN	17	23815332	unclassified	probably benign
IGL02325:Srrm2	APN	17	23810479	unclassified	probably benign
IGL02947:Srrm2	APN	17	23810746	missense	probably benign	0.23
IGL03002:Srrm2	APN	17	23815734	unclassified	probably benign
BB009:Srrm2	UTSW	17	23818527	missense	probably benign	0.23
BB019:Srrm2	UTSW	17	23818527	missense	probably benign	0.23
R0173:Srrm2	UTSW	17	23815129	unclassified	probably benign
R1018:Srrm2	UTSW	17	23822540	missense	probably damaging	0.98
R1109:Srrm2	UTSW	17	23819617	unclassified	probably benign
R1199:Srrm2	UTSW	17	23817751	unclassified	probably benign
R1471:Srrm2	UTSW	17	23820796	missense	probably damaging	1.00
R1478:Srrm2	UTSW	17	23815902	missense	probably benign	0.23
R1618:Srrm2	UTSW	17	23818932	unclassified	probably benign
R1678:Srrm2	UTSW	17	23818986	missense	probably benign	0.23
R1853:Srrm2	UTSW	17	23820525	missense	probably damaging	1.00
R1968:Srrm2	UTSW	17	23821491	missense	probably damaging	1.00
R2094:Srrm2	UTSW	17	23812429	unclassified	probably benign
R2102:Srrm2	UTSW	17	23817748	unclassified	probably benign
R2156:Srrm2	UTSW	17	23818263	missense	probably benign	0.23
R2214:Srrm2	UTSW	17	23816745	unclassified	probably benign
R2913:Srrm2	UTSW	17	23815684	unclassified	probably benign
R3721:Srrm2	UTSW	17	23822575	small deletion	probably benign
R4411:Srrm2	UTSW	17	23810468	unclassified	probably benign
R4412:Srrm2	UTSW	17	23810468	unclassified	probably benign
R4413:Srrm2	UTSW	17	23810468	unclassified	probably benign
R4583:Srrm2	UTSW	17	23819619	unclassified	probably benign
R4682:Srrm2	UTSW	17	23815692	missense	probably benign	0.23
R4910:Srrm2	UTSW	17	23815388	unclassified	probably benign
R4943:Srrm2	UTSW	17	23822415	missense	possibly damaging	0.94
R5023:Srrm2	UTSW	17	23819317	unclassified	probably benign
R5033:Srrm2	UTSW	17	23820618	missense	probably damaging	1.00
R5163:Srrm2	UTSW	17	23819550	unclassified	probably benign
R5186:Srrm2	UTSW	17	23816587	missense	probably benign	0.23
R5197:Srrm2	UTSW	17	23817384	missense	probably benign	0.23
R5366:Srrm2	UTSW	17	23818704	missense	probably benign	0.23
R5483:Srrm2	UTSW	17	23821272	missense	probably damaging	0.96
R5551:Srrm2	UTSW	17	23818476	unclassified	probably benign
R5602:Srrm2	UTSW	17	23819337	unclassified	probably benign
R5733:Srrm2	UTSW	17	23821386	missense	probably damaging	0.98
R5774:Srrm2	UTSW	17	23818275	unclassified	probably benign
R5909:Srrm2	UTSW	17	23821317	missense	probably benign	0.27
R5961:Srrm2	UTSW	17	23820109	unclassified	probably benign
R6122:Srrm2	UTSW	17	23820356	missense	possibly damaging	0.58
R6906:Srrm2	UTSW	17	23820363	missense	probably damaging	0.97
R7084:Srrm2	UTSW	17	23820316	missense	probably damaging	0.99
R7177:Srrm2	UTSW	17	23816773	missense	unknown
R7197:Srrm2	UTSW	17	23818224	missense	unknown
R7442:Srrm2	UTSW	17	23820117	missense	unknown
R7644:Srrm2	UTSW	17	23819320	missense	unknown
R7664:Srrm2	UTSW	17	23820981	missense	probably damaging	0.99
R7874:Srrm2	UTSW	17	23815678	missense	unknown
R7932:Srrm2	UTSW	17	23818527	missense	probably benign	0.23
R7958:Srrm2	UTSW	17	23821312	missense	probably benign	0.25
R8081:Srrm2	UTSW	17	23820245	missense	probably damaging	1.00
R8118:Srrm2	UTSW	17	23808083	missense	unknown
R8174:Srrm2	UTSW	17	23815323	missense	unknown
R8191:Srrm2	UTSW	17	23820245	missense	probably damaging	1.00
R8334:Srrm2	UTSW	17	23808356	missense	unknown
R8523:Srrm2	UTSW	17	23808515	unclassified	probably benign
RF006:Srrm2	UTSW	17	23812588	missense	unknown
Z1176:Srrm2	UTSW	17	23817183	missense	unknown
Z1177:Srrm2	UTSW	17	23817510	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCACCTGAATTGTGTAGCA -3'
(R):5'- ACAGTTAGGCTAGGGACTAAGGA -3'

Sequencing Primer
(F):5'- CCACTGTTCTAGAGAGCATAGTG -3'
(R):5'- AAGATGAAGGCAAAACTGAATCCTAC -3'

Posted On

2020-09-15