Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Scmh1'

174867

Institutional Source

Beutler Lab

Gene Symbol

Scmh1

Ensembl Gene

ENSMUSG00000000085

Gene Name

sex comb on midleg homolog 1

Synonyms

Scml3

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1624 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

120262478-120387383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120386425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 655 (H655R)

Ref Sequence

ENSEMBL: ENSMUSP00000101908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000062990] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301]

AlphaFold

Q8K214

Predicted Effect

probably damaging
Transcript: ENSMUST00000000087
AA Change: H655R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: H655R

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.3e-50	PFAM
SAM	594	662	1.8e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062990

SMART Domains

Protein: ENSMUSP00000050896
Gene: ENSMUSG00000047518

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
low complexity region	149	173	N/A	INTRINSIC
Pfam:AlbA_2	224	359	2.1e-30	PFAM
coiled coil region	369	401	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000064991
AA Change: H655R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: H655R

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	357	465	5.8e-39	PFAM
SAM	594	662	1.57e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106298
AA Change: H655R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: H655R

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.3e-50	PFAM
SAM	594	662	1.8e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106301
AA Change: H655R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: H655R

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.7e-50	PFAM
SAM	594	662	1.57e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144862

Meta Mutation Damage Score

0.3147

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton. [provided by MGI curators]

Allele List at MGI

All alleles(67) : Targeted(4) Gene trapped(63)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,496 (GRCm39)	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,276,031 (GRCm39)	H81L	probably damaging	Het
Acbd4	A	G	11: 102,994,785 (GRCm39)	T48A	probably damaging	Het
Acp3	T	A	9: 104,197,200 (GRCm39)	E146D	probably benign	Het
Acsm1	T	A	7: 119,251,796 (GRCm39)	I307N	probably damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agl	T	C	3: 116,580,895 (GRCm39)	T356A	probably benign	Het
Ago1	A	G	4: 126,357,534 (GRCm39)	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,496,363 (GRCm39)	Y75N	probably benign	Het
Anxa2	T	A	9: 69,386,990 (GRCm39)	S92T	probably benign	Het
Arid4b	T	C	13: 14,358,979 (GRCm39)	S585P	probably damaging	Het
Arl4d	T	C	11: 101,557,842 (GRCm39)	S123P	possibly damaging	Het
Atad2	A	T	15: 57,963,415 (GRCm39)	D1067E	probably damaging	Het
Brap	C	A	5: 121,820,922 (GRCm39)	T403K	possibly damaging	Het
Brwd1	A	T	16: 95,809,344 (GRCm39)	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,171,087 (GRCm39)	T464A	probably benign	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdh11	T	C	8: 103,391,233 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,725,163 (GRCm39)	Y691F	probably benign	Het
Clhc1	A	T	11: 29,519,287 (GRCm39)	I365F	possibly damaging	Het
Col11a1	A	G	3: 113,951,804 (GRCm39)	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375 (GRCm39)	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,795,754 (GRCm39)	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,327,225 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,618,918 (GRCm39)	I1661N	probably damaging	Het
Dpysl4	A	C	7: 138,669,469 (GRCm39)	D49A	probably damaging	Het
Efhb	T	A	17: 53,733,306 (GRCm39)	I522F	probably damaging	Het
Epha4	T	C	1: 77,376,329 (GRCm39)	T517A	probably damaging	Het
Fasn	A	G	11: 120,703,937 (GRCm39)	S1466P	probably damaging	Het
Fgd6	A	T	10: 93,973,298 (GRCm39)	D1253V	probably benign	Het
Fjx1	G	A	2: 102,281,509 (GRCm39)	A142V	probably benign	Het
Foxb1	T	C	9: 69,666,598 (GRCm39)	T311A	probably benign	Het
Fpgs	A	G	2: 32,581,200 (GRCm39)		probably null	Het
Gm10024	A	G	10: 77,547,606 (GRCm39)		probably null	Het
Gnat3	A	T	5: 18,208,841 (GRCm39)	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,362,543 (GRCm39)	F875I	probably benign	Het
Kif13b	A	G	14: 64,976,068 (GRCm39)	E461G	probably damaging	Het
Kif23	A	T	9: 61,832,982 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,896,540 (GRCm39)	R134Q	possibly damaging	Het
Krt33a	A	T	11: 99,905,072 (GRCm39)	Y145N	probably damaging	Het
Lama5	A	G	2: 179,848,551 (GRCm39)	V313A	probably benign	Het
Lamb1	T	C	12: 31,328,651 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mtor	C	T	4: 148,632,133 (GRCm39)	L2336F	probably damaging	Het
Naglu	T	C	11: 100,967,351 (GRCm39)	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,580,655 (GRCm39)	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,752,184 (GRCm39)	T733I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,573 (GRCm39)	E558G	probably damaging	Het
Nsun4	A	T	4: 115,891,397 (GRCm39)	N327K	probably benign	Het
Or11g27	A	G	14: 50,771,100 (GRCm39)	Y77C	probably damaging	Het
Or1x2	T	C	11: 50,917,952 (GRCm39)	V41A	probably damaging	Het
Or2m13	T	A	16: 19,226,454 (GRCm39)	Y104F	probably benign	Het
Or4f6	T	A	2: 111,838,877 (GRCm39)	Y218F	probably damaging	Het
Or6b13	T	C	7: 139,781,864 (GRCm39)	N273S	probably damaging	Het
Pdia2	T	A	17: 26,415,495 (GRCm39)	I441F	probably damaging	Het
Phyh	T	C	2: 4,930,494 (GRCm39)	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661 (GRCm39)	L146P	probably damaging	Het
Plce1	A	G	19: 38,713,219 (GRCm39)	D1191G	probably damaging	Het
Plrg1	T	C	3: 82,975,301 (GRCm39)		probably benign	Het
Plrg1	G	A	3: 82,977,051 (GRCm39)	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,515,669 (GRCm39)	L614S	probably damaging	Het
Pramel16	A	T	4: 143,676,400 (GRCm39)	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,663,027 (GRCm39)	V193A	probably damaging	Het
Prss16	T	A	13: 22,187,483 (GRCm39)	E47V	probably benign	Het
Ptpru	G	A	4: 131,499,861 (GRCm39)	T1261I	probably damaging	Het
Pycard	A	G	7: 127,591,970 (GRCm39)	S124P	possibly damaging	Het
Riok1	C	A	13: 38,221,487 (GRCm39)	D17E	probably damaging	Het
Scin	T	A	12: 40,177,929 (GRCm39)	Y102F	probably benign	Het
Scyl2	A	T	10: 89,476,598 (GRCm39)	N842K	probably benign	Het
Sec23b	T	A	2: 144,409,049 (GRCm39)	M211K	probably benign	Het
Serpina3i	A	C	12: 104,234,897 (GRCm39)	*409C	probably null	Het
Sgk2	G	A	2: 162,839,779 (GRCm39)	R129H	probably benign	Het
Slc39a13	A	G	2: 90,898,871 (GRCm39)	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,029,631 (GRCm39)	D73G	probably benign	Het
Spata18	A	C	5: 73,826,888 (GRCm39)	T276P	probably damaging	Het
Srgap1	T	G	10: 121,691,278 (GRCm39)	M319L	probably benign	Het
Stx7	T	A	10: 24,060,903 (GRCm39)	V210E	probably damaging	Het
Tjp2	T	A	19: 24,108,776 (GRCm39)	H112L	probably benign	Het
Tuba8	A	T	6: 121,197,385 (GRCm39)	I16F	probably damaging	Het
Ube3c	G	A	5: 29,851,617 (GRCm39)	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,417,116 (GRCm39)	V14E	probably benign	Het
Vmn2r79	A	T	7: 86,653,247 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,343,018 (GRCm39)	T466A	possibly damaging	Het

Other mutations in Scmh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Scmh1	APN	4	120,387,097 (GRCm39)	utr 3 prime	probably benign
IGL01962:Scmh1	APN	4	120,340,781 (GRCm39)	splice site	probably benign
IGL02013:Scmh1	APN	4	120,340,929 (GRCm39)	missense	possibly damaging	0.77
IGL02081:Scmh1	APN	4	120,372,275 (GRCm39)	missense	probably damaging	1.00
IGL02223:Scmh1	APN	4	120,372,416 (GRCm39)	missense	probably benign	0.26
IGL02530:Scmh1	APN	4	120,385,343 (GRCm39)	splice site	probably benign
IGL02887:Scmh1	APN	4	120,325,586 (GRCm39)	missense	probably damaging	1.00
P0024:Scmh1	UTSW	4	120,335,231 (GRCm39)	missense	probably damaging	1.00
R0164:Scmh1	UTSW	4	120,387,062 (GRCm39)	unclassified	probably benign
R0164:Scmh1	UTSW	4	120,387,062 (GRCm39)	unclassified	probably benign
R0200:Scmh1	UTSW	4	120,341,028 (GRCm39)	missense	probably damaging	0.99
R1598:Scmh1	UTSW	4	120,372,327 (GRCm39)	missense	possibly damaging	0.83
R2276:Scmh1	UTSW	4	120,340,869 (GRCm39)	missense	probably damaging	1.00
R3734:Scmh1	UTSW	4	120,335,277 (GRCm39)	missense	probably damaging	1.00
R4167:Scmh1	UTSW	4	120,386,473 (GRCm39)	intron	probably benign
R4570:Scmh1	UTSW	4	120,385,495 (GRCm39)	missense	probably damaging	1.00
R5458:Scmh1	UTSW	4	120,362,478 (GRCm39)	unclassified	probably benign
R5564:Scmh1	UTSW	4	120,325,575 (GRCm39)	missense	probably damaging	1.00
R5700:Scmh1	UTSW	4	120,374,143 (GRCm39)	missense	probably benign	0.10
R5991:Scmh1	UTSW	4	120,379,817 (GRCm39)	missense	probably benign
R5999:Scmh1	UTSW	4	120,362,712 (GRCm39)	critical splice donor site	probably null
R7097:Scmh1	UTSW	4	120,382,252 (GRCm39)	missense	probably benign
R7432:Scmh1	UTSW	4	120,386,353 (GRCm39)	missense	probably damaging	1.00
R8327:Scmh1	UTSW	4	120,379,699 (GRCm39)	missense	probably benign
R8680:Scmh1	UTSW	4	120,319,331 (GRCm39)	missense	probably benign
R8745:Scmh1	UTSW	4	120,362,559 (GRCm39)	nonsense	probably null
R9018:Scmh1	UTSW	4	120,362,514 (GRCm39)	missense	probably benign	0.01
R9141:Scmh1	UTSW	4	120,362,556 (GRCm39)	missense	probably benign	0.00
R9283:Scmh1	UTSW	4	120,319,337 (GRCm39)	missense	probably benign
R9426:Scmh1	UTSW	4	120,362,556 (GRCm39)	missense	probably benign	0.00
R9454:Scmh1	UTSW	4	120,372,276 (GRCm39)	missense	probably benign
R9487:Scmh1	UTSW	4	120,320,284 (GRCm39)	nonsense	probably null
R9617:Scmh1	UTSW	4	120,340,827 (GRCm39)	missense	probably damaging	1.00
R9775:Scmh1	UTSW	4	120,340,820 (GRCm39)	missense	probably benign
Z1176:Scmh1	UTSW	4	120,335,239 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGTGTGCCTAACACTGCTCTGG -3'
(R):5'- CGTCTAAACTTGTGGAGAGAGGCTG -3'

Sequencing Primer
(F):5'- TAACACTGCTCTGGACGGTC -3'
(R):5'- CCACAGCAGGCTAAGGG -3'

Posted On

2014-04-24