Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02947:Srrm2'

364789

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24029720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 222 (S222P)

Ref Sequence

ENSEMBL: ENSMUSP00000139842 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088621
AA Change: S126P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: S126P

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

probably benign
Transcript: ENSMUST00000186961

SMART Domains

Protein: ENSMUSP00000140813
Gene: ENSMUSG00000039218

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190293

Predicted Effect

probably benign
Transcript: ENSMUST00000190686
AA Change: S222P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: S222P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,957 (GRCm39)	V13A	probably benign	Het
Atp8b5	T	A	4: 43,305,774 (GRCm39)	I106K	possibly damaging	Het
Cdh15	T	C	8: 123,592,111 (GRCm39)	S633P	probably benign	Het
Celsr3	A	G	9: 108,723,134 (GRCm39)	T228A	probably benign	Het
Cfap90	T	A	13: 68,759,312 (GRCm39)	F95L	probably benign	Het
Chrng	A	G	1: 87,137,606 (GRCm39)		probably null	Het
Coprs	T	C	8: 13,935,782 (GRCm39)	E79G	probably damaging	Het
Cpb2	A	C	14: 75,520,758 (GRCm39)	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,358,815 (GRCm39)	I368N	probably damaging	Het
Ddah1	T	C	3: 145,464,842 (GRCm39)	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,261,514 (GRCm39)	T573A	probably benign	Het
Exoc6b	T	A	6: 84,835,411 (GRCm39)	M375L	probably benign	Het
Fasn	T	C	11: 120,706,502 (GRCm39)	E994G	probably damaging	Het
Fem1a	T	A	17: 56,565,640 (GRCm39)	C578S	probably benign	Het
Garnl3	A	G	2: 32,936,606 (GRCm39)	S188P	probably damaging	Het
Gpn3	T	C	5: 122,516,551 (GRCm39)	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,043,690 (GRCm39)	D59G	probably damaging	Het
Hydin	A	T	8: 111,145,094 (GRCm39)	E815V	probably damaging	Het
Itga9	C	T	9: 118,487,601 (GRCm39)	T228M	probably damaging	Het
Kpna7	T	C	5: 144,930,884 (GRCm39)	I320M	probably damaging	Het
Lnpep	T	C	17: 17,791,234 (GRCm39)	T437A	probably damaging	Het
Ltf	C	T	9: 110,868,015 (GRCm39)	T48I	probably benign	Het
Masp1	T	G	16: 23,313,476 (GRCm39)	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,264,373 (GRCm39)	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787 (GRCm39)	S171T	probably damaging	Het
Nos1	G	A	5: 118,081,382 (GRCm39)	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,179,246 (GRCm39)	S55P	probably benign	Het
Oc90	T	C	15: 65,759,983 (GRCm39)	K212R	probably benign	Het
Or2a12	A	G	6: 42,904,830 (GRCm39)	I222V	probably benign	Het
Or5t15	C	T	2: 86,681,130 (GRCm39)	R304K	probably benign	Het
Or6c202	C	A	10: 128,996,439 (GRCm39)	C138F	probably damaging	Het
Prr12	T	A	7: 44,697,980 (GRCm39)	Q645L	unknown	Het
Psmd9	A	G	5: 123,384,278 (GRCm39)	I145V	probably benign	Het
Rbks	T	C	5: 31,817,407 (GRCm39)	I121V	probably benign	Het
Rnase2b	A	T	14: 51,400,264 (GRCm39)	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,675,723 (GRCm39)	E78G	probably benign	Het
Sltm	A	G	9: 70,498,946 (GRCm39)	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,182,759 (GRCm39)	Y100*	probably null	Het
Sult3a1	G	A	10: 33,740,046 (GRCm39)	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Tmem53	C	T	4: 117,125,285 (GRCm39)	Q111*	probably null	Het
Togaram1	T	A	12: 65,068,274 (GRCm39)	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,878,483 (GRCm39)	D628V	probably damaging	Het
Ttn	T	A	2: 76,544,838 (GRCm39)	K31009*	probably null	Het
Vldlr	A	G	19: 27,217,120 (GRCm39)	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,934,231 (GRCm39)	F245S	probably benign	Het
Vrtn	T	A	12: 84,695,258 (GRCm39)	S3T	probably damaging	Het
Vwa7	A	G	17: 35,242,476 (GRCm39)		probably null	Het
Wrnip1	T	A	13: 33,006,053 (GRCm39)	Y632N	probably damaging	Het

Other mutations in Srrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Srrm2	APN	17	24,031,452 (GRCm39)	missense	probably benign	0.23
IGL00484:Srrm2	APN	17	24,037,492 (GRCm39)	missense	probably benign	0.23
IGL01413:Srrm2	APN	17	24,034,999 (GRCm39)	unclassified	probably benign
IGL02272:Srrm2	APN	17	24,034,756 (GRCm39)	unclassified	probably benign
IGL02279:Srrm2	APN	17	24,034,306 (GRCm39)	unclassified	probably benign
IGL02325:Srrm2	APN	17	24,029,453 (GRCm39)	unclassified	probably benign
IGL03002:Srrm2	APN	17	24,034,708 (GRCm39)	unclassified	probably benign
BB009:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
BB019:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R0173:Srrm2	UTSW	17	24,034,103 (GRCm39)	unclassified	probably benign
R1018:Srrm2	UTSW	17	24,041,514 (GRCm39)	missense	probably damaging	0.98
R1109:Srrm2	UTSW	17	24,038,591 (GRCm39)	unclassified	probably benign
R1199:Srrm2	UTSW	17	24,036,725 (GRCm39)	unclassified	probably benign
R1471:Srrm2	UTSW	17	24,039,770 (GRCm39)	missense	probably damaging	1.00
R1478:Srrm2	UTSW	17	24,034,876 (GRCm39)	missense	probably benign	0.23
R1618:Srrm2	UTSW	17	24,037,906 (GRCm39)	unclassified	probably benign
R1678:Srrm2	UTSW	17	24,037,960 (GRCm39)	missense	probably benign	0.23
R1853:Srrm2	UTSW	17	24,039,499 (GRCm39)	missense	probably damaging	1.00
R1968:Srrm2	UTSW	17	24,040,465 (GRCm39)	missense	probably damaging	1.00
R2094:Srrm2	UTSW	17	24,031,403 (GRCm39)	unclassified	probably benign
R2102:Srrm2	UTSW	17	24,036,722 (GRCm39)	unclassified	probably benign
R2156:Srrm2	UTSW	17	24,037,237 (GRCm39)	missense	probably benign	0.23
R2214:Srrm2	UTSW	17	24,035,719 (GRCm39)	unclassified	probably benign
R2913:Srrm2	UTSW	17	24,034,658 (GRCm39)	unclassified	probably benign
R3721:Srrm2	UTSW	17	24,041,549 (GRCm39)	small deletion	probably benign
R4411:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4412:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4413:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4583:Srrm2	UTSW	17	24,038,593 (GRCm39)	unclassified	probably benign
R4682:Srrm2	UTSW	17	24,034,666 (GRCm39)	missense	probably benign	0.23
R4910:Srrm2	UTSW	17	24,034,362 (GRCm39)	unclassified	probably benign
R4943:Srrm2	UTSW	17	24,041,389 (GRCm39)	missense	possibly damaging	0.94
R5023:Srrm2	UTSW	17	24,038,291 (GRCm39)	unclassified	probably benign
R5033:Srrm2	UTSW	17	24,039,592 (GRCm39)	missense	probably damaging	1.00
R5163:Srrm2	UTSW	17	24,038,524 (GRCm39)	unclassified	probably benign
R5186:Srrm2	UTSW	17	24,035,561 (GRCm39)	missense	probably benign	0.23
R5197:Srrm2	UTSW	17	24,036,358 (GRCm39)	missense	probably benign	0.23
R5366:Srrm2	UTSW	17	24,037,678 (GRCm39)	missense	probably benign	0.23
R5483:Srrm2	UTSW	17	24,040,246 (GRCm39)	missense	probably damaging	0.96
R5551:Srrm2	UTSW	17	24,037,450 (GRCm39)	unclassified	probably benign
R5602:Srrm2	UTSW	17	24,038,311 (GRCm39)	unclassified	probably benign
R5733:Srrm2	UTSW	17	24,040,360 (GRCm39)	missense	probably damaging	0.98
R5774:Srrm2	UTSW	17	24,037,249 (GRCm39)	unclassified	probably benign
R5909:Srrm2	UTSW	17	24,040,291 (GRCm39)	missense	probably benign	0.27
R5961:Srrm2	UTSW	17	24,039,083 (GRCm39)	unclassified	probably benign
R6122:Srrm2	UTSW	17	24,039,330 (GRCm39)	missense	possibly damaging	0.58
R6906:Srrm2	UTSW	17	24,039,337 (GRCm39)	missense	probably damaging	0.97
R7084:Srrm2	UTSW	17	24,039,290 (GRCm39)	missense	probably damaging	0.99
R7177:Srrm2	UTSW	17	24,035,747 (GRCm39)	missense	unknown
R7197:Srrm2	UTSW	17	24,037,198 (GRCm39)	missense	unknown
R7442:Srrm2	UTSW	17	24,039,091 (GRCm39)	missense	unknown
R7644:Srrm2	UTSW	17	24,038,294 (GRCm39)	missense	unknown
R7664:Srrm2	UTSW	17	24,039,955 (GRCm39)	missense	probably damaging	0.99
R7874:Srrm2	UTSW	17	24,034,652 (GRCm39)	missense	unknown
R7932:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R7950:Srrm2	UTSW	17	24,027,084 (GRCm39)	missense	unknown
R7958:Srrm2	UTSW	17	24,040,286 (GRCm39)	missense	probably benign	0.25
R8081:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8118:Srrm2	UTSW	17	24,027,057 (GRCm39)	missense	unknown
R8174:Srrm2	UTSW	17	24,034,297 (GRCm39)	missense	unknown
R8191:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8334:Srrm2	UTSW	17	24,027,330 (GRCm39)	missense	unknown
R8523:Srrm2	UTSW	17	24,027,489 (GRCm39)	unclassified	probably benign
R8728:Srrm2	UTSW	17	24,038,831 (GRCm39)	missense	unknown
R8912:Srrm2	UTSW	17	24,038,575 (GRCm39)	missense	probably benign	0.23
R9209:Srrm2	UTSW	17	24,039,880 (GRCm39)	missense	probably benign	0.05
RF006:Srrm2	UTSW	17	24,031,562 (GRCm39)	missense	unknown
Z1176:Srrm2	UTSW	17	24,036,157 (GRCm39)	missense	unknown
Z1177:Srrm2	UTSW	17	24,036,484 (GRCm39)	missense	unknown

Posted On

2015-12-18