Mutagenetix > Incidental Mutation

Incidental Mutation 'R1604:Scml2'

176371

Institutional Source

Beutler Lab

Gene Symbol

Scml2

Ensembl Gene

ENSMUSG00000000037

Gene Name

Scm polycomb group protein like 2

Synonyms

4932420G07Rik

MMRRC Submission

039641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1604 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

159865521-160041209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 160014442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 566 (E566D)

Ref Sequence

ENSEMBL: ENSMUSP00000107964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019101] [ENSMUST00000074802] [ENSMUST00000077375] [ENSMUST00000087090] [ENSMUST00000101113] [ENSMUST00000112345]

AlphaFold

B1AVB3

Predicted Effect

probably benign
Transcript: ENSMUST00000019101
AA Change: E566D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000019101
Gene: ENSMUSG00000000037
AA Change: E566D

Domain	Start	End	E-Value	Type
MBT	10	108	4.15e-41	SMART
MBT	116	217	2.88e-49	SMART
low complexity region	223	241	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
internal_repeat_1	301	355	2.21e-6	PROSPERO
internal_repeat_1	553	607	2.21e-6	PROSPERO
low complexity region	613	640	N/A	INTRINSIC
low complexity region	661	681	N/A	INTRINSIC
low complexity region	690	702	N/A	INTRINSIC
low complexity region	707	728	N/A	INTRINSIC
Pfam:DUF3588	734	849	1.6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074802

SMART Domains

Protein: ENSMUSP00000074356
Gene: ENSMUSG00000000037

Domain	Start	End	E-Value	Type
MBT	10	108	4.15e-41	SMART
MBT	116	217	2.88e-49	SMART
low complexity region	223	241	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
low complexity region	553	580	N/A	INTRINSIC
low complexity region	601	621	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	647	668	N/A	INTRINSIC
Pfam:DUF3588	674	789	1.5e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077375
AA Change: E565D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076593
Gene: ENSMUSG00000000037
AA Change: E565D

Domain	Start	End	E-Value	Type
MBT	10	108	4.15e-41	SMART
MBT	116	217	2.88e-49	SMART
low complexity region	223	241	N/A	INTRINSIC
low complexity region	244	253	N/A	INTRINSIC
internal_repeat_1	300	354	2.78e-6	PROSPERO
internal_repeat_1	552	606	2.78e-6	PROSPERO
low complexity region	612	639	N/A	INTRINSIC
low complexity region	660	680	N/A	INTRINSIC
low complexity region	689	701	N/A	INTRINSIC
low complexity region	706	727	N/A	INTRINSIC
Pfam:DUF3588	736	845	3.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087090

SMART Domains

Protein: ENSMUSP00000084325
Gene: ENSMUSG00000000037

Domain	Start	End	E-Value	Type
low complexity region	51	62	N/A	INTRINSIC
MBT	72	170	4.15e-41	SMART
MBT	178	279	2.88e-49	SMART
low complexity region	285	303	N/A	INTRINSIC
low complexity region	306	316	N/A	INTRINSIC
low complexity region	535	562	N/A	INTRINSIC
low complexity region	583	603	N/A	INTRINSIC
low complexity region	612	624	N/A	INTRINSIC
low complexity region	629	650	N/A	INTRINSIC
Pfam:DUF3588	656	771	1.4e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101113

SMART Domains

Protein: ENSMUSP00000098672
Gene: ENSMUSG00000000037

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
MBT	98	196	4.15e-41	SMART
MBT	204	305	2.88e-49	SMART
low complexity region	311	329	N/A	INTRINSIC
low complexity region	332	342	N/A	INTRINSIC
low complexity region	533	560	N/A	INTRINSIC
low complexity region	581	601	N/A	INTRINSIC
low complexity region	610	622	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
Pfam:DUF3588	654	769	1.4e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112345
AA Change: E566D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107964
Gene: ENSMUSG00000000037
AA Change: E566D

Domain	Start	End	E-Value	Type
MBT	10	108	4.15e-41	SMART
MBT	116	217	2.88e-49	SMART
low complexity region	223	241	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
internal_repeat_1	301	355	2.3e-6	PROSPERO
internal_repeat_1	553	607	2.3e-6	PROSPERO
low complexity region	609	636	N/A	INTRINSIC
low complexity region	657	677	N/A	INTRINSIC
low complexity region	686	698	N/A	INTRINSIC
low complexity region	703	724	N/A	INTRINSIC
Pfam:DUF3588	730	845	1.6e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124775

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male sterility with small testis, impaired differentiation in spermatogenesis and apoptosis of differentiating male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,405 (GRCm39)	D110G	probably damaging	Het
Angptl2	T	C	2: 33,133,785 (GRCm39)	M369T	possibly damaging	Het
Anks3	C	T	16: 4,766,117 (GRCm39)	V151M	probably damaging	Het
Arl6ip6	T	C	2: 53,082,508 (GRCm39)	L125P	probably damaging	Het
Bmp1	T	C	14: 70,745,444 (GRCm39)	Q247R	possibly damaging	Het
Ccdc30	A	G	4: 119,188,793 (GRCm39)	I491T	probably damaging	Het
Cdhr1	T	A	14: 36,817,050 (GRCm39)	I104F	probably benign	Het
Cdk17	G	T	10: 93,068,360 (GRCm39)	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,058,787 (GRCm39)	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,035,487 (GRCm39)	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,697,369 (GRCm39)	N244D	probably damaging	Het
Dop1b	G	T	16: 93,559,458 (GRCm39)	V617F	probably benign	Het
Erbb4	G	T	1: 68,385,728 (GRCm39)	A287E	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gad2	T	C	2: 22,513,852 (GRCm39)		probably null	Het
Gm17421	G	A	12: 113,333,155 (GRCm39)		noncoding transcript	Het
Gm9894	T	A	13: 67,913,008 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,700 (GRCm39)	S193P	probably damaging	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Hdgf	T	A	3: 87,821,347 (GRCm39)		probably null	Het
Itgb8	A	T	12: 119,166,265 (GRCm39)	L89M	probably damaging	Het
Lnx2	T	C	5: 146,966,135 (GRCm39)	D328G	probably benign	Het
Lrguk	A	G	6: 34,049,305 (GRCm39)	T341A	possibly damaging	Het
Map1b	A	G	13: 99,566,080 (GRCm39)	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804 (GRCm39)	F131L	probably damaging	Het
Msmo1	A	G	8: 65,180,689 (GRCm39)	I75T	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or2a56	G	A	6: 42,932,650 (GRCm39)	A73T	possibly damaging	Het
Or51k1	G	T	7: 103,661,162 (GRCm39)	A249E	probably damaging	Het
Or8c13	A	G	9: 38,091,645 (GRCm39)	V158A	probably benign	Het
Or8d2	T	G	9: 38,760,000 (GRCm39)	F197V	probably benign	Het
Pkhd1l1	C	T	15: 44,330,763 (GRCm39)	R113*	probably null	Het
Polr2m	T	C	9: 71,390,959 (GRCm39)	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,060,287 (GRCm39)	M268K	probably benign	Het
Ptprcap	T	A	19: 4,206,073 (GRCm39)	L52*	probably null	Het
Rasgrp2	C	T	19: 6,457,087 (GRCm39)	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,831,310 (GRCm39)	N286D	probably damaging	Het
Scrib	A	C	15: 75,920,089 (GRCm39)	S1557A	probably damaging	Het
Sergef	C	A	7: 46,092,783 (GRCm39)	V409L	probably benign	Het
Shisal1	T	C	15: 84,290,672 (GRCm39)	M212V	probably benign	Het
Slc6a13	A	G	6: 121,309,328 (GRCm39)	M280V	probably benign	Het
Slc9a8	C	T	2: 167,313,352 (GRCm39)	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Spc25	T	C	2: 69,035,498 (GRCm39)	D4G	probably damaging	Het
Specc1	C	T	11: 61,933,883 (GRCm39)	R88C	probably damaging	Het
Srsf11	C	T	3: 157,724,948 (GRCm39)		probably null	Het
Stt3b	T	C	9: 115,079,995 (GRCm39)	E639G	probably damaging	Het
Sult3a1	A	C	10: 33,742,616 (GRCm39)	E81A	probably damaging	Het
Taf1b	G	A	12: 24,606,623 (GRCm39)	G481D	probably benign	Het
Tgm4	T	C	9: 122,874,129 (GRCm39)	V123A	probably benign	Het
Tie1	G	T	4: 118,331,604 (GRCm39)	H973N	probably damaging	Het
Tmem117	C	T	15: 94,992,425 (GRCm39)	R362W	probably damaging	Het
Txnip	A	T	3: 96,466,277 (GRCm39)	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vcan	A	G	13: 89,837,780 (GRCm39)	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,564,245 (GRCm39)	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709 (GRCm39)	V193A	probably benign	Het
Zcchc8	C	T	5: 123,838,721 (GRCm39)	A606T	probably benign	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,830,949 (GRCm39)	D352G	probably damaging	Het
Zfp784	A	G	7: 5,039,453 (GRCm39)		probably benign	Het
Zfp940	A	T	7: 29,545,500 (GRCm39)	F136I	probably benign	Het

Other mutations in Scml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02593:Scml2	APN	X	159,970,305 (GRCm39)	missense	probably benign	0.13
R1605:Scml2	UTSW	X	160,014,442 (GRCm39)	missense	possibly damaging	0.46
R2110:Scml2	UTSW	X	160,014,442 (GRCm39)	missense	possibly damaging	0.46
Z1176:Scml2	UTSW	X	160,026,504 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGTGTGACACATCACATGAGCATGG -3'
(R):5'- AACAATGTACCACTGAGCTGATTGTTCC -3'

Sequencing Primer
(F):5'- TCACATGAGCATGGTGATAGCC -3'
(R):5'- ACTGAGCTGATTGTTCCTTTTC -3'

Posted On

2014-04-24